{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:18:02Z","timestamp":1790993882881,"version":"4.1.0"},"reference-count":178,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS108765"],"award-info":[{"award-number":["NS108765"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS108296"],"award-info":[{"award-number":["NS108296"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Drugs"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1007\/s40272-019-00378-y","type":"journal-article","created":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T07:03:13Z","timestamp":1578985393000},"page":"149-164","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Drug Treatment of Progressive Myoclonic Epilepsy"],"prefix":"10.1007","volume":"22","author":[{"given":"Gregory L.","family":"Holmes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,1,14]]},"reference":[{"issue":"3","key":"378_CR1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/practneurol-2014-000994","volume":"15","author":"N Malek","year":"2015","unstructured":"Malek N, Stewart W, Greene J. The progressive myoclonic epilepsies. Pract Neurol. 2015;15(3):164\u201371.","journal-title":"Pract Neurol."},{"issue":"4","key":"378_CR2","doi-asserted-by":"crossref","first-page":"514","DOI":"10.4103\/0028-3886.68660","volume":"58","author":"P Satishchandra","year":"2010","unstructured":"Satishchandra P, Sinha S. Progressive myoclonic epilepsy. Neurol India. 2010;58(4):514\u201322.","journal-title":"Neurol India."},{"issue":"10","key":"378_CR3","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1016\/S1474-4422(10)70193-9","volume":"9","author":"JM Dijk","year":"2010","unstructured":"Dijk JM, Tijssen MA. Management of patients with myoclonus: available therapies and the need for an evidence-based approach. Lancet Neurol. 2010;9(10):1028\u201336.","journal-title":"Lancet Neurol."},{"issue":"3","key":"378_CR4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1055\/s-0035-1552620","volume":"35","author":"R Kalviainen","year":"2015","unstructured":"Kalviainen R. Progressive myoclonus epilepsies. Seminars in neurology. 2015;35(3):293\u20139.","journal-title":"Seminars in neurology."},{"issue":"5","key":"378_CR5","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1212\/WNL.0000000000000077","volume":"82","author":"S Franceschetti","year":"2014","unstructured":"Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology. 2014;82(5):405\u201311.","journal-title":"Neurology."},{"issue":"S2","key":"378_CR6","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1684\/epd.2016.0834","volume":"18","author":"P Genton","year":"2016","unstructured":"Genton P, Striano P, Minassian BA. The history of progressive myoclonus epilepsies. Epileptic Disord. 2016;18(S2):3\u201310.","journal-title":"Epileptic Disord."},{"issue":"S2","key":"378_CR7","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1684\/epd.2016.0862","volume":"18","author":"BA Minassian","year":"2016","unstructured":"Minassian BA. Post-modern therapeutic approaches for progressive myoclonus epilepsy. Epileptic Disord. 2016;18(S2):154\u20138.","journal-title":"Epileptic Disord."},{"issue":"S2","key":"378_CR8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1684\/epd.2016.0864","volume":"18","author":"BA Minassian","year":"2016","unstructured":"Minassian BA, Striano P, Avanzini G. Progressive myoclonus epilepsy: the gene-empowered era. Epileptic Disord. 2016;18(S2):1\u20132.","journal-title":"Epileptic Disord."},{"issue":"3","key":"378_CR9","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.ncl.2009.04.002","volume":"27","author":"John N. Caviness","year":"2009","unstructured":"Caviness JN. Pathophysiology and treatment of myoclonus. Neurol Clin. 2009 Aug;27(3):757-77, vii.","journal-title":"Neurologic Clinics"},{"issue":"10","key":"378_CR10","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S1474-4422(04)00880-4","volume":"3","author":"JN Caviness","year":"2004","unstructured":"Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol. 2004;3(10):598\u2013607.","journal-title":"Lancet Neurol."},{"key":"378_CR11","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/B978-0-444-52891-9.00069-5","volume":"111","author":"R Guerrini","year":"2013","unstructured":"Guerrini R, Takahashi T. Myoclonus and epilepsy. Handb Clin Neurol. 2013;111:667\u201379.","journal-title":"Handb Clin Neurol."},{"key":"378_CR12","doi-asserted-by":"crossref","unstructured":"Eberhardt O, Topka H. Myoclonic Disorders. Brain Sci. 2017 Aug 14;7(8).","DOI":"10.3390\/brainsci7080103"},{"issue":"2","key":"378_CR13","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.20234","volume":"31","author":"H Shibasaki","year":"2005","unstructured":"Shibasaki H, Hallett M. Electrophysiological studies of myoclonus. Muscle Nerve. 2005;31(2):157\u201374.","journal-title":"Muscle Nerve."},{"issue":"S2","key":"378_CR14","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1684\/epd.2016.0835","volume":"18","author":"G Avanzini","year":"2016","unstructured":"Avanzini G, Shibasaki H, Rubboli G, Canafoglia L, Panzica F, Franceschetti S, et al. Neurophysiology of myoclonus and progressive myoclonus epilepsies. Epileptic Disord. 2016;18(S2):11\u201327.","journal-title":"Epileptic Disord."},{"issue":"3","key":"378_CR15","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/brain\/101.3.447","volume":"101","author":"H Shibasaki","year":"1978","unstructured":"Shibasaki H, Yamashita Y, Kuroiwa Y. Electroencephalographic studies myoclonus. Brain. 1978;101(3):447\u201360.","journal-title":"Brain."},{"issue":"Pt 3","key":"378_CR16","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/brain\/122.3.461","volume":"122","author":"P Brown","year":"1999","unstructured":"Brown P, Farmer SF, Halliday DM, Marsden J, Rosenberg JR. Coherent cortical and muscle discharge in cortical myoclonus. Brain. 1999;122(Pt 3):461\u201372.","journal-title":"Brain."},{"issue":"119","key":"378_CR17","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1093\/brain\/119.1.309","volume":"1996","author":"P Brown","year":"1996","unstructured":"Brown P, Ridding MC, Werhahn KJ, Rothwell JC, Marsden CD. Abnormalities of the balance between inhibition and excitation in the motor cortex of patients with cortical myoclonus. Brain. 1996;1996(119):309\u201317.","journal-title":"Brain."},{"issue":"10","key":"378_CR18","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1016\/S1388-2457(02)00223-7","volume":"113","author":"P Grosse","year":"2002","unstructured":"Grosse P, Cassidy MJ, Brown P. EEG-EMG, MEG-EMG and EMG-EMG frequency analysis: physiological principles and clinical applications. Clin Neurophysiol. 2002;113(10):1523\u201331.","journal-title":"Clin Neurophysiol."},{"issue":"101","key":"378_CR19","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/brain\/101.3.447","volume":"1978","author":"H Shibasaki","year":"1978","unstructured":"Shibasaki H, Yamashita Y, Kuroiwa Y. Electroencephalographic studies of myoclonus: myoclonus related cortical spike and high amplitude somatosensory evoked potential. Brain. 1978;1978(101):447\u201360.","journal-title":"Brain."},{"issue":"1","key":"378_CR20","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1212\/WNL.43.1_Part_1.186","volume":"43","author":"DC Reutens","year":"1993","unstructured":"Reutens DC, Puce A, Berkovic SF. Cortical hyperexcitability in progressive myoclonus epilepsy: a study with transcranial magnetic stimulation. Neurology. 1993;43(1):186\u201392.","journal-title":"Neurology."},{"issue":"2","key":"378_CR21","doi-asserted-by":"crossref","first-page":"a022764","DOI":"10.1101\/cshperspect.a022764","volume":"6","author":"R Khazipov","year":"2016","unstructured":"Khazipov R. GABAergic synchronization in epilepsy. Cold Spring Harb Perspect Med. 2016;6(2):a022764.","journal-title":"Cold Spring Harb Perspect Med."},{"issue":"6","key":"378_CR22","doi-asserted-by":"crossref","first-page":"37703","DOI":"10.1038\/srep37703","volume":"23","author":"D Fan","year":"2016","unstructured":"Fan D, Liu S, Wang Q. Stimulus-induced epileptic spike-wave discharges in thalamocortical model with disinhibition. Sci Rep. 2016;23(6):37703.","journal-title":"Sci Rep."},{"issue":"37","key":"378_CR23","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/ana.410370204","volume":"1995","author":"OC Snead III","year":"1995","unstructured":"Snead OC III. Basic mechanisms of generalized absence seizures. Ann Neurol. 1995;1995(37):146\u201357.","journal-title":"Ann Neurol."},{"issue":"5","key":"378_CR24","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/nrn811","volume":"3","author":"V Crunelli","year":"2002","unstructured":"Crunelli V, Leresche N. Childhood absence epilepsy: genes, channels, neurons and networks. Nat Rev Neurosci. 2002;3(5):371\u201382.","journal-title":"Nat Rev Neurosci."},{"issue":"14","key":"378_CR25","first-page":"16","volume":"1991","author":"V Crunelli","year":"1991","unstructured":"Crunelli V, Leresche N. A role for GABAB receptors in excitation and inhibition of thalamocortical cells. TINS. 1991;1991(14):16\u201321.","journal-title":"TINS."},{"issue":"1","key":"378_CR26","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1007\/s13311-013-0216-3","volume":"11","author":"JN Caviness","year":"2014","unstructured":"Caviness JN. Treatment of myoclonus. Neurotherapeutics. 2014;11(1):188\u2013200.","journal-title":"Neurotherapeutics."},{"issue":"7","key":"378_CR27","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/S0387-7604(01)00281-9","volume":"23","author":"H Oguni","year":"2001","unstructured":"Oguni H, Fukuyama Y, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, et al. Myoclonic-astatic epilepsy of early childhood\u2013clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain Dev. 2001;23(7):757\u201364.","journal-title":"Brain Dev."},{"key":"378_CR28","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/B978-0-444-52014-2.00041-0","volume":"100","author":"N Nardocci","year":"2011","unstructured":"Nardocci N. Myoclonus-dystonia syndrome. Handb Clin Neurol. 2011;100:563\u201375.","journal-title":"Handb Clin Neurol."},{"issue":"6","key":"378_CR29","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/S1388-2457(03)00066-X","volume":"114","author":"F Panzica","year":"2003","unstructured":"Panzica F, Canafoglia L, Franceschetti S, Binelli S, Ciano C, Visani E, et al. Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models. Clin Neurophysiol. 2003;114(6):1041\u201352.","journal-title":"Clin Neurophysiol."},{"issue":"4","key":"378_CR30","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1528-1167.2008.01546.x","volume":"49","author":"R Kalviainen","year":"2008","unstructured":"Kalviainen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia. 2008;49(4):549\u201356.","journal-title":"Epilepsia."},{"issue":"1","key":"378_CR31","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.jns.2006.09.021","volume":"252","author":"S Sinha","year":"2007","unstructured":"Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK. Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India. J Neurol Sci. 2007;252(1):16\u201323.","journal-title":"J Neurol Sci."},{"issue":"8","key":"378_CR32","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1111\/epi.13820","volume":"58","author":"N Specchio","year":"2017","unstructured":"Specchio N, Bellusci M, Pietrafusa N, Trivisano M, de Palma L, Vigevano F. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. Epilepsia. 2017;58(8):1380\u20138.","journal-title":"Epilepsia."},{"issue":"21","key":"378_CR33","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1056\/NEJMoa1611618","volume":"376","author":"O Devinsky","year":"2017","unstructured":"Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, et al. Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. N Engl J Med. 2017;376(21):2011\u201320.","journal-title":"N Engl J Med."},{"issue":"3","key":"378_CR34","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s12041-018-0949-1","volume":"97","author":"R Parihar","year":"2018","unstructured":"Parihar R, Rai A, Ganesh S. Lafora disease: from genotype to phenotype. J Genet. 2018;97(3):611\u201324.","journal-title":"J Genet."},{"issue":"S2","key":"378_CR35","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1684\/epd.2016.0842","volume":"18","author":"J Turnbull","year":"2016","unstructured":"Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, et al. Lafora disease. Epileptic Disord. 2016;18(S2):38\u201362.","journal-title":"Epileptic Disord."},{"issue":"1","key":"378_CR36","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0887-8994(00)00276-9","volume":"25","author":"BA Minassian","year":"2001","unstructured":"Minassian BA. Lafora\u2019s disease: towards a clinical, pathologic, and molecular synthesis. Pediatr Neurol. 2001;25(1):21\u20139.","journal-title":"Pediatr Neurol"},{"issue":"2","key":"378_CR37","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ncpneuro0706","volume":"4","author":"P Striano","year":"2008","unstructured":"Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, et al. Typical progression of myoclonic epilepsy of the Lafora type: a case report. Nat Clin Pract Neurol. 2008;4(2):106\u201311.","journal-title":"Nat Clin Pract Neurol."},{"issue":"15","key":"378_CR38","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1093\/oxfordjournals.hmg.a018916","volume":"9","author":"S Ganesh","year":"2000","unstructured":"Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, et al. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. Hum Mol Genet. 2000;9(15):2251\u201361.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"378_CR39","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/2470","volume":"20","author":"BA Minassian","year":"1998","unstructured":"Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998;20(2):171\u20134.","journal-title":"Nat Genet."},{"issue":"9","key":"378_CR40","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1136\/jmg.40.9.671","volume":"40","author":"EM Chan","year":"2003","unstructured":"Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, et al. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J Med Genet. 2003;40(9):671\u20135.","journal-title":"J Med Genet."},{"issue":"2","key":"378_CR41","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/1531-8249(20010201)49:2<271::AID-ANA52>3.0.CO;2-D","volume":"49","author":"BA Minassian","year":"2001","unstructured":"Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, et al. Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase. Ann Neurol. 2001;49(2):271\u20135.","journal-title":"Ann Neurol."},{"issue":"Pt 9","key":"378_CR42","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1093\/brain\/aws205","volume":"135","author":"J Turnbull","year":"2012","unstructured":"Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, et al. Early-onset Lafora body disease. Brain. 2012;135(Pt 9):2684\u201398.","journal-title":"Brain."},{"issue":"10","key":"378_CR43","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/s41582-018-0057-0","volume":"14","author":"F Nitschke","year":"2018","unstructured":"Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA. Lafora disease\u2014from pathogenesis to treatment strategies. Nat Rev Neurol. 2018;14(10):606\u201317.","journal-title":"Nat Rev Neurol."},{"issue":"15","key":"378_CR44","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1212\/WNL.0000000000001466","volume":"84","author":"J Hypponen","year":"2015","unstructured":"Hypponen J, Aikia M, Joensuu T, Julkunen P, Danner N, Koskenkorva P, et al. Refining the phenotype of Unverricht\u2013Lundborg disease (EPM1): a population-wide Finnish study. Neurology. 2015;84(15):1529\u201336.","journal-title":"Neurology."},{"key":"378_CR45","doi-asserted-by":"crossref","unstructured":"Lehesjoki AE, Gardiner M. Progressive myoclonus epilepsy: Unverricht\u2013Lundborg disease and neuronal ceroid lipofuscinoses. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper\u2019s basic mechanisms of the epilepsies. Bethesda (MD); 2012.","DOI":"10.1093\/med\/9780199746545.003.0069"},{"issue":"5","key":"378_CR46","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1056\/NEJM198607313150506","volume":"315","author":"SF Berkovic","year":"1986","unstructured":"Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med. 1986;315(5):296\u2013305.","journal-title":"N Engl J Med."},{"key":"378_CR47","first-page":"157","volume-title":"Recent advances in epilepsy","author":"SF Berkovic","year":"1986","unstructured":"Berkovic SF, Andermann F. The progressive myoclonus epilepsies. In: Pedley TA, Meldrum BS, editors. Recent advances in epilepsy, vol. 3. Edinburgh: Churchill Livingstone; 1986. p. 157\u201387."},{"issue":"1","key":"378_CR48","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/ana.410280129","volume":"28","author":"Classification of progressive myoclonus epilepsies and related disorders","year":"1990","unstructured":"Classification of progressive myoclonus epilepsies and related disorders. Marseille consensus group. Ann Neurol. 1990;28(1):113\u20136.","journal-title":"Ann Neurol."},{"issue":"5256","key":"378_CR49","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1126\/science.271.5256.1731","volume":"271","author":"LA Pennacchio","year":"1996","unstructured":"Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science. 1996;271(5256):1731\u20134.","journal-title":"Science."},{"issue":"11","key":"378_CR50","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1101\/gr.6.11.1103","volume":"6","author":"LA Pennacchio","year":"1996","unstructured":"Pennacchio LA, Myers RM. Isolation and characterization of the mouse cystatin B gene. Genome Res. 1996;6(11):1103\u20139.","journal-title":"Genome Res."},{"issue":"6627","key":"378_CR51","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1038\/386847a0","volume":"386","author":"MD Lalioti","year":"1997","unstructured":"Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature. 1997;386(6627):847\u201351.","journal-title":"Nature."},{"issue":"62","key":"378_CR52","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1086\/301798","volume":"1998","author":"MD Lalioti","year":"1998","unstructured":"Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M\u2019Rhabet A, et al. A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet. 1998;1998(62):842\u20137.","journal-title":"Am J Hum Genet."},{"issue":"3","key":"378_CR53","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/ng0397-298","volume":"15","author":"RG Lafreniere","year":"1997","unstructured":"Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kalviainen R, et al. Unstable insertion in the 5\u2019 flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet. 1997;15(3):298\u2013302.","journal-title":"Nat Genet."},{"issue":"S2","key":"378_CR54","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1684\/epd.2016.0861","volume":"18","author":"R Michelucci","year":"2016","unstructured":"Michelucci R, Pasini E, Riguzzi P, Andermann E, Kalviainen R, Genton P. Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials. Epileptic Disord. 2016;18(S2):145\u201353.","journal-title":"Epileptic Disord."},{"key":"378_CR55","unstructured":"Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA); 1993."},{"issue":"1","key":"378_CR56","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13024-018-0300-6","volume":"14","author":"AB Mukherjee","year":"2019","unstructured":"Mukherjee AB, Appu AP, Sadhukhan T, Casey S, Mondal A, Zhang Z, et al. Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses. Mol Neurodegener. 2019;14(1):4.","journal-title":"Mol Neurodegener."},{"issue":"24","key":"378_CR57","doi-asserted-by":"crossref","first-page":"476","DOI":"10.21037\/atm.2018.11.39","volume":"6","author":"A Sun","year":"2018","unstructured":"Sun A. Lysosomal storage disease overview. Ann Transl Med. 2018;6(24):476.","journal-title":"Ann Transl Med."},{"issue":"1\u20132","key":"378_CR58","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2016.07.011","volume":"119","author":"M Fietz","year":"2016","unstructured":"Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvorakova L, et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016;119(1\u20132):160\u20137.","journal-title":"Mol Genet Metab."},{"issue":"2","key":"378_CR59","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1212\/WNL.0b013e31825f0547","volume":"79","author":"RE Williams","year":"2012","unstructured":"Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79(2):183\u201391.","journal-title":"Neurology."},{"key":"378_CR60","doi-asserted-by":"crossref","unstructured":"Alcalde-Cabero E, Almazan-Isla J, Garcia Lopez FJ, Ara-Callizo JR, Avellanal F, Casasnovas C, et al. Guillain\u2013Barre syndrome following the 2009 pandemic monovalent and seasonal trivalent influenza vaccination campaigns in Spain from 2009 to 2011: outcomes from active surveillance by a neurologist network, and records from a country-wide hospital discharge database. BMC Neurol. 2016;16(1):75.","DOI":"10.1186\/s12883-016-0598-z"},{"issue":"11","key":"378_CR61","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1016\/j.bbadis.2013.04.008","volume":"1832","author":"A Schulz","year":"2013","unstructured":"Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases\u2014clinical perspectives. Biochim Biophys Acta. 2013;1832(11):1801\u20136.","journal-title":"Biochim Biophys Acta."},{"issue":"14","key":"378_CR62","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1212\/WNL.0b013e31821435bd","volume":"76","author":"JR Ostergaard","year":"2011","unstructured":"Ostergaard JR, Rasmussen TB, Molgaard H. Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011;76(14):1245\u201351.","journal-title":"Neurology."},{"issue":"1","key":"378_CR63","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.ijcard.2014.03.159","volume":"174","author":"P Dilaveris","year":"2014","unstructured":"Dilaveris P, Koutagiar I, Aggeli C, Sideris S, Gatzoulis K, Stefanadis C. Severe sinus node dysfunction in a patient with juvenile neuronal ceroid lipofuscinosis. Int J Cardiol. 2014;174(1):143\u20136.","journal-title":"Int J Cardiol."},{"issue":"11\u201312","key":"378_CR64","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.2119\/molmed.2010.00241","volume":"17","author":"AH Lebrun","year":"2011","unstructured":"Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, et al. Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med. 2011;17(11\u201312):1253\u201361.","journal-title":"Mol Med."},{"issue":"10","key":"378_CR65","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1016\/j.bbadis.2015.05.011","volume":"1852","author":"Sara E. Mole","year":"2015","unstructured":"Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10 Pt B):2237-41.","journal-title":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"},{"issue":"8","key":"378_CR66","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/S2352-4642(18)30179-2","volume":"2","author":"M Nickel","year":"2018","unstructured":"Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, et al. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. Lancet Child Adolesc Health. 2018;2(8):582\u201390.","journal-title":"Lancet Child Adolesc Health."},{"key":"378_CR67","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.pediatrneurol.2017.01.034","volume":"69","author":"RE Williams","year":"2017","unstructured":"Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, et al. Management strategies for CLN2 disease. Pediatr Neurol. 2017;69:102\u201312.","journal-title":"Pediatr Neurol."},{"issue":"4","key":"378_CR68","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1177\/0883073812448459","volume":"28","author":"MS Perez-Poyato","year":"2013","unstructured":"Perez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sanchez VC, Gonzalez MJ, et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013;28(4):470\u20138.","journal-title":"J Child Neurol."},{"issue":"6","key":"378_CR69","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1212\/01.wnl.0000267885.47092.40","volume":"69","author":"S Worgall","year":"2007","unstructured":"Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology. 2007;69(6):521\u201335.","journal-title":"Neurology."},{"issue":"6","key":"378_CR70","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1086\/302427","volume":"64","author":"DE Sleat","year":"1999","unstructured":"Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, et al. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet. 1999;64(6):1511\u201323.","journal-title":"Am J Hum Genet."},{"issue":"9","key":"378_CR71","doi-asserted-by":"crossref","first-page":"7135","DOI":"10.1074\/jbc.M211872200","volume":"278","author":"AA Golabek","year":"2003","unstructured":"Golabek AA, Kida E, Walus M, Wujek P, Mehta P, Wisniewski KE. Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I. J Biol Chem. 2003;278(9):7135\u201345.","journal-title":"J Biol Chem."},{"issue":"2","key":"378_CR72","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0014-5793(98)01683-4","volume":"443","author":"DJ Vines","year":"1999","unstructured":"Vines DJ, Warburton MJ. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett. 1999;443(2):131\u20135.","journal-title":"FEBS Lett."},{"issue":"11","key":"378_CR73","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1007\/s40265-017-0771-8","volume":"77","author":"A Markham","year":"2017","unstructured":"Markham A. Cerliponase alfa: first global approval. Drugs. 2017;77(11):1247\u20139.","journal-title":"Drugs."},{"issue":"S2","key":"378_CR74","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1684\/epd.2016.0844","volume":"18","author":"DA Nita","year":"2016","unstructured":"Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disord. 2016;18(S2):73\u201388.","journal-title":"Epileptic Disord."},{"issue":"4","key":"378_CR75","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/dmcn.12634","volume":"57","author":"EF Augustine","year":"2015","unstructured":"Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, et al. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57(4):366\u201371.","journal-title":"Dev Med Child Neurol."},{"issue":"3","key":"378_CR76","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1055\/s-0036-1579784","volume":"47","author":"J Johannsen","year":"2016","unstructured":"Johannsen J, Nickel M, Schulz A, Denecke J. Considering valproate as a risk factor for rapid exacerbation of complex movement disorder in progressed stages of late-infantile CLN2 disease. Neuropediatrics. 2016;47(3):194\u20136.","journal-title":"Neuropediatrics."},{"issue":"6","key":"378_CR77","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","volume":"82","author":"Terry J Lerner","year":"1995","unstructured":"Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995;82(6):949\u201357.","journal-title":"Cell"},{"issue":"21","key":"378_CR78","doi-asserted-by":"crossref","first-page":"3332","DOI":"10.1093\/hmg\/ddn228","volume":"17","author":"CH Chan","year":"2008","unstructured":"Chan CH, Mitchison HM, Pearce DA. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. Hum Mol Genet. 2008;17(21):3332\u20139.","journal-title":"Hum Mol Genet."},{"issue":"1","key":"378_CR79","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.jceh.2014.02.005","volume":"4","author":"A Nagral","year":"2014","unstructured":"Nagral A. Gaucher disease. J Clin Exp Hepatol. 2014;4(1):37\u201350.","journal-title":"J Clin Exp Hepatol."},{"issue":"1","key":"378_CR80","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.braindev.2005.04.005","volume":"28","author":"Cyril Mignot","year":"2006","unstructured":"Mignot C, Doummar D, Maire I, De Villemeur TB, French Type 2 Gaucher Disease Study G. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006;28(1):39\u201348.","journal-title":"Brain and Development"},{"issue":"6","key":"378_CR81","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1055\/s-2007-973507","volume":"30","author":"CM Harris","year":"1999","unstructured":"Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics. 1999;30(6):289\u201393.","journal-title":"Neuropediatrics."},{"key":"378_CR82","doi-asserted-by":"crossref","unstructured":"Blom S, Erikson A. Gaucher disease\u2013Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects. Eur J Pediatr. 1983;140(4):316\u201322.","DOI":"10.1007\/BF00442672"},{"key":"378_CR83","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1007\/978-1-4419-6741-1_11","volume":"688","author":"MC Messner","year":"2010","unstructured":"Messner MC, Cabot MC. Glucosylceramide in humans. Adv Exp Med Biol. 2010;688:156\u201364.","journal-title":"Adv Exp Med Biol."},{"key":"378_CR84","doi-asserted-by":"crossref","unstructured":"Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015;27(3):CD010324.","DOI":"10.1002\/14651858.CD010324.pub2"},{"key":"378_CR85","unstructured":"Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington."},{"key":"378_CR86","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.bcmd.2016.11.006","volume":"68","author":"Y Tezuka","year":"2018","unstructured":"Tezuka Y, Fukuda M, Watanabe S, Nakano T, Okamoto K, Kuzume K, et al. Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy. Blood Cells Mol Dis. 2018;68:194\u20139.","journal-title":"Blood Cells Mol Dis."},{"issue":"5","key":"378_CR87","doi-asserted-by":"crossref","first-page":"e191","DOI":"10.3928\/19382359-20180424-01","volume":"47","author":"M Li","year":"2018","unstructured":"Li M. Enzyme replacement therapy: a review and its role in treating lysosomal storage diseases. Pediatr Ann. 2018;47(5):e191\u20137.","journal-title":"Pediatr Ann."},{"key":"378_CR88","unstructured":"DiMauro S, Hirano M. MERRF. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington."},{"key":"378_CR89","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.seizure.2017.06.010","volume":"50","author":"J Finsterer","year":"2017","unstructured":"Finsterer J, Zarrouk-Mahjoub S. Management of epilepsy in MERRF syndrome. Seizure. 2017;50:166\u201370.","journal-title":"Seizure."},{"issue":"10","key":"378_CR90","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1590\/0004-282X20140124","volume":"72","author":"PJ Lorenzoni","year":"2014","unstructured":"Lorenzoni PJ, Scola RH, Kay CS, Silvado CE, Werneck LC. When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? Arq Neuropsiquiatr. 2014;72(10):803\u201311.","journal-title":"Arq Neuropsiquiatr."},{"key":"378_CR91","first-page":"217","volume":"89","author":"S DiMauro","year":"2002","unstructured":"DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol. 2002;89:217\u201329.","journal-title":"Adv Neurol."},{"key":"378_CR92","doi-asserted-by":"crossref","first-page":"S90","DOI":"10.1002\/mus.880181419","volume":"3","author":"N Fukuhara","year":"1995","unstructured":"Fukuhara N. Clinicopathological features of MERRF. Muscle Nerve Suppl. 1995;3:S90\u20134.","journal-title":"Muscle Nerve Suppl."},{"issue":"3","key":"378_CR93","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.mito.2011.01.003","volume":"11","author":"PJ Lorenzoni","year":"2011","unstructured":"Lorenzoni PJ, Scola RH, Kay CS, Arndt RC, Silvado CE, Werneck LC. MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion. 2011;11(3):528\u201332.","journal-title":"Mitochondrion."},{"issue":"3","key":"378_CR94","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1351-5101.2003.00728.x","volume":"11","author":"J Finsterer","year":"2004","unstructured":"Finsterer J. Mitochondriopathies. Eur J Neurol. 2004;11(3):163\u201386.","journal-title":"Eur J Neurol."},{"issue":"10","key":"378_CR95","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1093\/brain\/120.10.1713","volume":"120","author":"P. Chinnery","year":"1997","unstructured":"Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain. 1997;120 (Pt 10):1713\u201321.","journal-title":"Brain"},{"issue":"5","key":"378_CR96","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1093\/brain\/112.5.1231","volume":"112","author":"S. F. BERKOVIC","year":"1989","unstructured":"Berkovic SF, Carpenter S, Evans A, Karpati G, Shoubridge EA, Andermann F, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain. 1989;112 (Pt 5):1231\u201360.","journal-title":"Brain"},{"issue":"6","key":"378_CR97","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/0960-8966(95)00009-C","volume":"5","author":"M Ozawa","year":"1995","unstructured":"Ozawa M, Goto Y, Sakuta R, Tanno Y, Tsuji S, Nonaka I. The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord. 1995;5(6):483\u20138.","journal-title":"Neuromuscul Disord."},{"key":"378_CR98","first-page":"665","volume-title":"The molecular and genetic basis of neurological disease","author":"S DiMauro","year":"1993","unstructured":"DiMauro S. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM, editors. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann; 1993. p. 665\u201394."},{"issue":"10","key":"378_CR99","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1212\/WNL.56.10.1340","volume":"56","author":"L Canafoglia","year":"2001","unstructured":"Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology. 2001;56(10):1340\u20136.","journal-title":"Neurology."},{"issue":"22","key":"378_CR100","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1212\/WNL.0b013e318294b44c","volume":"80","author":"M Mancuso","year":"2013","unstructured":"Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, et al. Phenotypic heterogeneity of the 8344A\u2009>\u2009G mtDNA \u201cMERRF\u201d mutation. Neurology. 2013;80(22):2049\u201354.","journal-title":"Neurology."},{"issue":"6","key":"378_CR101","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1002\/mds.25839","volume":"29","author":"M Mancuso","year":"2014","unstructured":"Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, et al. Myoclonus in mitochondrial disorders. Mov Disord. 2014;29(6):722\u20138.","journal-title":"Mov Disord."},{"key":"378_CR102","unstructured":"Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington."},{"issue":"5","key":"378_CR103","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","volume":"54","author":"S Rahman","year":"2012","unstructured":"Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol. 2012;54(5):397\u2013406.","journal-title":"Dev Med Child Neurol."},{"issue":"9","key":"378_CR104","doi-asserted-by":"crossref","first-page":"2316","DOI":"10.3390\/molecules23092316","volume":"23","author":"Yoon-ha Jang","year":"2018","unstructured":"Jang YH, Lim KI. Recent advances in mitochondria-targeted gene delivery. Molecules. 2018;23(9).","journal-title":"Molecules"},{"issue":"Pt 10","key":"378_CR105","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1093\/brain\/awh263","volume":"127","author":"A Badhwar","year":"2004","unstructured":"Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, et al. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. Brain. 2004;127(Pt 10):2173\u201382.","journal-title":"Brain."},{"issue":"4","key":"378_CR106","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ana.21765","volume":"66","author":"LM Dibbens","year":"2009","unstructured":"Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol. 2009;66(4):532\u20136.","journal-title":"Ann Neurol."},{"issue":"11","key":"378_CR107","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1186\/1471-2377-11-134","volume":"27","author":"F Hopfner","year":"2011","unstructured":"Hopfner F, Schormair B, Knauf F, Berthele A, Tolle TR, Baron R, et al. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. BMC Neurol. 2011;27(11):134.","journal-title":"BMC Neurol."},{"issue":"3","key":"378_CR108","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","volume":"82","author":"SF Berkovic","year":"2008","unstructured":"Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, et al. Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet. 2008;82(3):673\u201384.","journal-title":"Am J Hum Genet."},{"issue":"4","key":"378_CR109","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/mds.25296","volume":"28","author":"Yuichi Higashiyama","year":"2013","unstructured":"Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, et al. A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. Mov Disord. 2013;28(4):552\u20133.","journal-title":"Movement Disorders"},{"issue":"1","key":"378_CR110","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/mds.25738","volume":"29","author":"C Perandones","year":"2014","unstructured":"Perandones C, Pellene LA, Micheli F. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. Mov Disord. 2014;29(1):158\u20139.","journal-title":"Mov Disord."},{"key":"378_CR111","unstructured":"Fox MH, Bassuk AG. PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington."},{"issue":"11","key":"378_CR112","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1093\/hmg\/ddt075","volume":"22","author":"C Liu","year":"2013","unstructured":"Liu C, Lin C, Whitaker DT, Bakeri H, Bulgakov OV, Liu P, et al. Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis. Hum Mol Genet. 2013;22(11):2234\u201346.","journal-title":"Hum Mol Genet."},{"issue":"Pt 4","key":"378_CR113","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1093\/brain\/awt021","volume":"136","author":"L Boisse Lomax","year":"2013","unstructured":"Boisse Lomax L, Bayly MA, Hjalgrim H, Moller RS, Vlaar AM, Aaberg KM, et al. \u2018North Sea\u2019 progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. Brain. 2013;136(Pt 4):1146\u201354.","journal-title":"Brain."},{"issue":"5","key":"378_CR114","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.ajhg.2011.04.011","volume":"88","author":"MA Corbett","year":"2011","unstructured":"Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet. 2011;88(5):657\u201363.","journal-title":"Am J Hum Genet."},{"issue":"18","key":"378_CR115","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1093\/hmg\/9.18.2715","volume":"9","author":"EJ Bonten","year":"2000","unstructured":"Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet. 2000;9(18):2715\u201325.","journal-title":"Hum Mol Genet."},{"issue":"11","key":"378_CR116","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1007\/s00415-009-5213-4","volume":"256","author":"A Caciotti","year":"2009","unstructured":"Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d\u2019Azzo A, et al. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol. 2009;256(11):1911\u20135.","journal-title":"J Neurol."},{"issue":"5","key":"378_CR117","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1517\/21678707.2015.1025746","volume":"3","author":"A d\u2019Azzo","year":"2015","unstructured":"d\u2019Azzo A, Machado E, Annunziata I. Pathogenesis, emerging therapeutic targets and Treatment in Sialidosis. Expert Opin Orphan Drugs. 2015;3(5):491\u2013504.","journal-title":"Expert Opin Orphan Drugs."},{"issue":"2","key":"378_CR118","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/0022-510X(80)90197-5","volume":"48","author":"A. Federico","year":"1980","unstructured":"Federico A, Cecio A, Battini GA, Michalski JC, Strecker G, Guazzi GC. Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis. J Neurol Sci. 1980;48(2):157\u201369.","journal-title":"Journal of the Neurological Sciences"},{"issue":"22","key":"378_CR119","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1212\/WNL.56.10.1340","volume":"2001","author":"L Canafoglia","year":"2001","unstructured":"Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology. 2001;2001(22):1340\u20136.","journal-title":"Neurology."},{"issue":"1\u20132","key":"378_CR120","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.eplepsyres.2011.01.013","volume":"94","author":"L Canafoglia","year":"2011","unstructured":"Canafoglia L, Franceschetti S, Uziel G, Ciano C, Scaioli V, Guerrini R, et al. Characterization of severe action myoclonus in sialidoses. Epilepsy Res. 2011;94(1\u20132):86\u201393.","journal-title":"Epilepsy Res."},{"issue":"2","key":"378_CR121","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1001\/archophthalmol.2007.31","volume":"126","author":"JW Heroman","year":"2008","unstructured":"Heroman JW, Rychwalski P, Barr CC. Cherry red spot in sialidosis (mucolipidosis type I). Arch Ophthalmol. 2008;126(2):270\u20131.","journal-title":"Arch Ophthalmol."},{"issue":"11","key":"378_CR122","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1007\/s00018-013-1538-3","volume":"71","author":"EJ Bonten","year":"2014","unstructured":"Bonten EJ, Annunziata I, d\u2019Azzo A. Lysosomal multienzyme complex: pros and cons of working together. Cell Mol Life Sci. 2014;71(11):2017\u201332.","journal-title":"Cell Mol Life Sci."},{"issue":"1","key":"378_CR123","first-page":"1","volume":"31","author":"JA Lowden","year":"1979","unstructured":"Lowden JA, O\u2019Brien JS. Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet. 1979;31(1):1\u201318.","journal-title":"Am J Hum Genet."},{"issue":"5","key":"378_CR124","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.10268","volume":"22","author":"V Seyrantepe","year":"2003","unstructured":"Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003;22(5):343\u201352.","journal-title":"Hum Mutat."},{"key":"378_CR125","doi-asserted-by":"crossref","unstructured":"Khan A, Sergi C. Sialidosis. A review of morphology and molecular biology of a rare pediatric disorder. diagnostics (Basel). 2018 25;8(2).","DOI":"10.3390\/diagnostics8020029"},{"issue":"5","key":"378_CR126","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1080\/17512433.2019.1605904","volume":"12","author":"K Eschbach","year":"2019","unstructured":"Eschbach K, Knupp KG. Stiripentol for the treatment of seizures in Dravet syndrome. Expert Rev Clin Pharmacol. 2019;12(5):379\u201388.","journal-title":"Expert Rev Clin Pharmacol."},{"issue":"Suppl 3","key":"378_CR127","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1017\/cjn.2016.243","volume":"43","author":"MB Connolly","year":"2016","unstructured":"Connolly MB. Dravet syndrome: diagnosis and long-term course. Can J Neurol Sci. 2016;43(Suppl 3):S3\u20138.","journal-title":"Can J Neurol Sci."},{"issue":"3","key":"378_CR128","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.yebeh.2011.11.022","volume":"23","author":"Alex C. Bender","year":"2012","unstructured":"Bender AC, Morse RP, Scott RC, Holmes GL, Lenck-Santini PP. SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. Epilepsy Behav. 2012;23(3):177\u201386.","journal-title":"Epilepsy & Behavior"},{"key":"378_CR129","doi-asserted-by":"crossref","unstructured":"Dravet C. Dravet syndrome history. Dev Med Child Neurol. 2011;53 Suppl 2:1\u20136.","DOI":"10.1111\/j.1469-8749.2011.03964.x"},{"key":"378_CR130","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.02994.x","volume":"52","author":"Charlotte Dravet","year":"2011","unstructured":"Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52 Suppl 2:3\u20139.","journal-title":"Epilepsia"},{"issue":"41 Suppl 9","key":"378_CR131","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1528-1157.2000.tb02210.x","volume":"2000","author":"C Dravet","year":"2000","unstructured":"Dravet C. Severe myoclonic epilepsy in infants and its related syndromes. Epilepsia. 2000;2000(41 Suppl 9):7.","journal-title":"Epilepsia."},{"key":"378_CR132","first-page":"58","volume-title":"Epileptic syndromes in infancy, childhood, and adolescence","author":"C Dravet","year":"1985","unstructured":"Dravet C, Bureau M, Roger J. Severe myoclonic epilepsy in infants. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P, editors. Epileptic syndromes in infancy, childhood, and adolescence. London: John Libbey Eurotext, Ltd.; 1985. p. 58\u201367."},{"key":"378_CR133","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.eplepsyres.2017.01.007","volume":"130","author":"L Canafoglia","year":"2017","unstructured":"Canafoglia L, Ragona F, Panzica F, Piazza E, Freri E, Binelli S, et al. Movement-activated cortical myoclonus in Dravet syndrome. Epilepsy Res. 2017;130:47\u201352.","journal-title":"Epilepsy Res."},{"key":"378_CR134","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1528-1167.2011.02996.x","volume":"52","author":"Michelle Bureau","year":"2011","unstructured":"Bureau M, Dalla BB. Electroencephalographic characteristics of Dravet syndrome. Epilepsia. 2011;52 Suppl 2:13\u201323.","journal-title":"Epilepsia"},{"issue":"95","key":"378_CR135","first-page":"71","volume":"2005","author":"C Dravet","year":"2005","unstructured":"Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol. 2005;2005(95):71\u2013102.","journal-title":"Adv Neurol."},{"issue":"12","key":"378_CR136","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1212\/01.wnl.0000249312.73155.7d","volume":"67","author":"F. E. Jansen","year":"2006","unstructured":"Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology. 2006;67(12):2224\u20136.","journal-title":"Neurology"},{"issue":"3","key":"378_CR137","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s40272-016-0171-7","volume":"18","author":"A Wallace","year":"2016","unstructured":"Wallace A, Wirrell E, Kenney-Jung DL. Pharmacotherapy for Dravet syndrome. Paediatr Drugs. 2016;18(3):197\u2013208.","journal-title":"Paediatr Drugs."},{"key":"378_CR138","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.eplepsyres.2019.03.001","volume":"152","author":"P Perucca","year":"2019","unstructured":"Perucca P, Perucca E. Identifying mutations in epilepsy genes: impact on treatment selection. Epilepsy Res. 2019;152:18\u201330.","journal-title":"Epilepsy Res."},{"issue":"2","key":"378_CR139","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/epi.13275","volume":"57","author":"R Kalviainen","year":"2016","unstructured":"Kalviainen R, Genton P, Andermann E, Andermann F, Magaudda A, Frucht SJ, et al. Brivaracetam in Unverricht\u2013Lundborg disease (EPM1): results from two randomized, double-blind, placebo-controlled studies. Epilepsia. 2016;57(2):210\u201321.","journal-title":"Epilepsia."},{"key":"378_CR140","doi-asserted-by":"crossref","unstructured":"Nabbout R, Mistry A, Zuberi S, Villeneuve N, Gil-Nagel A, Sanchez-Carpintero R, et al. Fenfluramine for treatment-resistant seizures in patients with Dravet syndrome receiving stiripentol-inclusive regimens: a randomized clinical trial. JAMA Neurol. 2019.","DOI":"10.1001\/jamaneurol.2019.4113"},{"key":"378_CR141","unstructured":"Lagae L, Sullivan J, Cross H. Fenfluramine HCl oral solution in Dravet syndrome: results of a phase 3, randomized, double-blind, placebo-controlled trial. Lancet. 2020."},{"issue":"1","key":"378_CR142","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s11940-002-0001-9","volume":"4","author":"BM Uthman","year":"2002","unstructured":"Uthman BM, Reichl A. Progressive myoclonic epilepsies. Curr Treat Options Neurol. 2002;4(1):3\u201317.","journal-title":"Curr Treat Options Neurol."},{"issue":"8","key":"378_CR143","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1744-9081-8-45","volume":"29","author":"J Finsterer","year":"2012","unstructured":"Finsterer J. Mitochondrion-toxic drugs given to patients with mitochondrial psychoses. Behav Brain Funct. 2012;29(8):45.","journal-title":"Behav Brain Funct."},{"issue":"6","key":"378_CR144","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1080\/14737175.2016.1179113","volume":"16","author":"MJ Brodie","year":"2016","unstructured":"Brodie MJ. Modern management of juvenile myoclonic epilepsy. Expert Rev Neurother. 2016;16(6):681\u20138.","journal-title":"Expert Rev Neurother."},{"issue":"4","key":"378_CR145","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1001\/archneur.1982.00510160042008","volume":"39","author":"M Iivanainen","year":"1982","unstructured":"Iivanainen M, Himberg JJ. Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy. Arch Neurol. 1982;39(4):236\u20138.","journal-title":"Arch Neurol."},{"issue":"4","key":"378_CR146","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1474-4422(05)70043-0","volume":"4","author":"A Shahwan","year":"2005","unstructured":"Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 2005;4(4):239\u201348.","journal-title":"Lancet Neurol."},{"issue":"5","key":"378_CR147","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1001\/archneur.58.5.781","volume":"58","author":"M Fedi","year":"2001","unstructured":"Fedi M, Reutens D, Dubeau F, Andermann E, D\u2019Agostino D, Andermann F. Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy. Arch Neurol. 2001;58(5):781\u20136.","journal-title":"Arch Neurol."},{"issue":"3","key":"378_CR148","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/jnnp.64.3.344","volume":"64","author":"M Koskiniemi","year":"1998","unstructured":"Koskiniemi M, Van Vleymen B, Hakamies L, Lamusuo S, Taalas J. Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo. J Neurol Neurosurg Psychiatry. 1998;64(3):344\u20138.","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"378_CR149","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1684\/epd.2014.0654","volume":"16","author":"R Roivainen","year":"2014","unstructured":"Roivainen R, Karvonen MK, Puumala T. Seizure control in Unverricht\u2013Lundborg disease: a single-centre study. Epileptic Disord. 2014;16(2):191\u20135.","journal-title":"Epileptic Disord."},{"issue":"6","key":"378_CR150","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1111\/j.0013-9580.2004.56902.x","volume":"45","author":"A Magaudda","year":"2004","unstructured":"Magaudda A, Gelisse P, Genton P. Antimyoclonic effect of levetiracetam in 13 patients with Unverricht\u2013Lundborg disease: clinical observations. Epilepsia. 2004;45(6):678\u201381.","journal-title":"Epilepsia."},{"issue":"2","key":"378_CR151","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.yebeh.2004.11.014","volume":"6","author":"E Aykutlu","year":"2005","unstructured":"Aykutlu E, Baykan B, Gurses C, Bebek N, Buyukbabani N, Gokyigit A. Add-on therapy with topiramate in progressive myoclonic epilepsy. Epilepsy Behav. 2005;6(2):260\u20133.","journal-title":"Epilepsy Behav."},{"issue":"6","key":"378_CR152","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1212\/WNL.38.6.928","volume":"38","author":"TR Henry","year":"1988","unstructured":"Henry TR, Leppik IE, Gumnit RJ, Jacobs M. Progressive myoclonus epilepsy treated with zonisamide. Neurology. 1988;38(6):928\u201331.","journal-title":"Neurology."},{"issue":"2","key":"378_CR153","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/mds.23392","volume":"26","author":"D Italiano","year":"2011","unstructured":"Italiano D, Pezzella M, Coppola A, Magaudda A, Ferlazzo E, Bramanti P, et al. A pilot open-label trial of zonisamide in Unverricht\u2013Lundborg disease. Mov Disord. 2011;26(2):341\u20133.","journal-title":"Mov Disord."},{"issue":"1","key":"378_CR154","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.nurt.2006.11.002","volume":"4","author":"YT Ng","year":"2007","unstructured":"Ng YT, Collins SD. Clobazam. Neurotherapeutics. 2007;4(1):138\u201344.","journal-title":"Neurotherapeutics."},{"issue":"6","key":"378_CR155","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/dmcn.13704","volume":"60","author":"KA Myers","year":"2018","unstructured":"Myers KA, Lightfoot P, Patil SG, Cross JH, Scheffer IE. Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study. Dev Med Child Neurol. 2018;60(6):574\u20138.","journal-title":"Dev Med Child Neurol."},{"issue":"9242","key":"378_CR156","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1016\/S0140-6736(00)03157-3","volume":"356","author":"C Chiron","year":"2000","unstructured":"Chiron C, Marchand MC, Tran A, Rey E, d\u2019Athis P, Vincent J, et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet. 2000;356(9242):1638\u201342.","journal-title":"Lancet."},{"key":"378_CR157","first-page":"106002801985600","volume":"6","author":"ML Buck","year":"2019","unstructured":"Buck ML, Goodkin HP. Stiripentol: a novel antiseizure medication for the management of Dravet syndrome. Ann Pharmacother. 2019;6:1060028019856008.","journal-title":"Ann Pharmacother."},{"key":"378_CR158","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.yebeh.2016.06.041","volume":"62","author":"D Goldsmith","year":"2016","unstructured":"Goldsmith D, Minassian BA. Efficacy and tolerability of perampanel in ten patients with Lafora disease. Epilepsy Behav. 2016;62:132\u20135.","journal-title":"Epilepsy Behav."},{"issue":"4","key":"378_CR159","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1111\/epi.13662","volume":"58","author":"A Crespel","year":"2017","unstructured":"Crespel A, Gelisse P, Tang NP, Genton P. Perampanel in 12 patients with Unverricht\u2013Lundborg disease. Epilepsia. 2017;58(4):543\u20137.","journal-title":"Epilepsia."},{"issue":"Suppl 5","key":"378_CR160","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.0013-9580.2004.05003.x","volume":"45","author":"JW Wheless","year":"2004","unstructured":"Wheless JW. Nonpharmacologic treatment of the catastrophic epilepsies of childhood. Epilepsia. 2004;45(Suppl 5):17\u201322.","journal-title":"Epilepsia."},{"issue":"1","key":"378_CR161","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13023-017-0595-3","volume":"12","author":"ME van Egmond","year":"2017","unstructured":"van Egmond ME, Weijenberg A, van Rijn ME, Elting JW, Gelauff JM, Zutt R, et al. The efficacy of the modified Atkins diet in North Sea progressive myoclonus epilepsy: an observational prospective open-label study. Orphanet J Rare Dis. 2017;12(1):45.","journal-title":"Orphanet J Rare Dis."},{"issue":"10","key":"378_CR162","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1111\/j.1528-1167.2007.01166.x","volume":"48","author":"J Vesper","year":"2007","unstructured":"Vesper J, Steinhoff B, Rona S, Wille C, Bilic S, Nikkhah G, et al. Chronic high-frequency deep brain stimulation of the STN\/SNr for progressive myoclonic epilepsy. Epilepsia. 2007;48(10):1984\u20139.","journal-title":"Epilepsia."},{"issue":"4","key":"378_CR163","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.eplepsyres.2014.02.008","volume":"108","author":"Y Inoue","year":"2014","unstructured":"Inoue Y, Ohtsuka Y. Effectiveness of add-on stiripentol to clobazam and valproate in Japanese patients with Dravet syndrome: additional supportive evidence. Epilepsy Res. 2014;108(4):725\u201331.","journal-title":"Epilepsy Res."},{"issue":"18","key":"378_CR164","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1007\/s40265-019-01223-9","volume":"79","author":"S Auvin","year":"2019","unstructured":"Auvin S, Avbersek A, Bast T, Chiron C, Guerrini R, Kaminski RM, et al. Drug development for rare paediatric epilepsies: current state and future directions. Drugs. 2019;79(18):1917\u201335.","journal-title":"Drugs."},{"issue":"Pt 8","key":"378_CR165","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1093\/brain\/awv157","volume":"138","author":"JS van Campen","year":"2015","unstructured":"van Campen JS, Jansen FE, Pet MA, Otte WM, Hillegers MH, Joels M, et al. Relation between stress-precipitated seizures and the stress response in childhood epilepsy. Brain. 2015;138(Pt 8):2234\u201348.","journal-title":"Brain."},{"issue":"1","key":"378_CR166","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/S1474-4422(15)00219-7","volume":"15","author":"MJ Koepp","year":"2016","unstructured":"Koepp MJ, Caciagli L, Pressler RM, Lehnertz K, Beniczky S. Reflex seizures, traits, and epilepsies: from physiology to pathology. Lancet Neurol. 2016;15(1):92\u2013105.","journal-title":"Lancet Neurol."},{"issue":"12","key":"378_CR167","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1586\/ern.12.90","volume":"12","author":"Pasquale Striano","year":"2012","unstructured":"Striano P, Belcastro V. Treatment of myoclonic seizures. Expert Rev Neurother. 2012;12(12):1411\u20137 (quiz 8).","journal-title":"Expert Review of Neurotherapeutics"},{"issue":"46","key":"378_CR168","first-page":"852","volume":"1996","author":"DG Vossler","year":"1996","unstructured":"Vossler DG. Exacerbation of seizures in Lennox\u2013Gastaut syndrome by gabapentin. Neurology. 1996;1996(46):852\u20133.","journal-title":"Neurology."},{"issue":"2","key":"378_CR169","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0387-7604(99)00113-8","volume":"22","author":"Pierre Genton","year":"2000","unstructured":"Genton P. When antiepileptic drugs aggravate epilepsy. Brain Dev. 2000;22(2):75\u201380.","journal-title":"Brain and Development"},{"issue":"3","key":"378_CR170","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S0920-1211(00)00149-2","volume":"41","author":"D Schmidt","year":"2000","unstructured":"Schmidt D, Gram L, Brodie M, Kramer G, Perucca E, Kalviainen R, et al. Tiagabine in the treatment of epilepsy\u2014a clinical review with a guide for the prescribing physician. Epilepsy Res. 2000;41(3):245\u201351.","journal-title":"Epilepsy Res."},{"issue":"1","key":"378_CR171","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1684\/j.1950-6945.2003.tb00527.x","volume":"5","author":"GJ Sills","year":"2003","unstructured":"Sills GJ. Pre-clinical studies with the GABAergic compounds vigabatrin and tiagabine. Epileptic Disord. 2003;5(1):51\u20136.","journal-title":"Epileptic Disord."},{"issue":"1","key":"378_CR172","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.coph.2005.11.003","volume":"6","author":"G SILLS","year":"2006","unstructured":"Sills GJ. The mechanisms of action of gabapentin and pregabalin. Curr Opin Pharmacol. 2006;6(1):108\u201313.","journal-title":"Current Opinion in Pharmacology"},{"issue":"3","key":"378_CR173","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1016\/0006-2952(92)90590-F","volume":"43","author":"S Ponchaut","year":"1992","unstructured":"Ponchaut S, van Hoof F, Veitch K. Cytochrome aa3 depletion is the cause of the deficient mitochondrial respiration induced by chronic valproate administration. Biochem Pharmacol. 1992;43(3):644\u20137.","journal-title":"Biochem Pharmacol."},{"issue":"11","key":"378_CR174","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.1016\/0006-2952(92)90324-C","volume":"43","author":"Sylvie Ponchaut","year":"1992","unstructured":"Ponchaut S, van Hoof F, Veitch K. In vitro effects of valproate and valproate metabolites on mitochondrial oxidations. Relevance of CoA sequestration to the observed inhibitions. Biochem Pharmacol. 1992;43(11):2435\u201342.","journal-title":"Biochemical Pharmacology"},{"issue":"5","key":"378_CR175","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.tiv.2008.03.004","volume":"22","author":"NA Santos","year":"2008","unstructured":"Santos NA, Medina WS, Martins NM, Mingatto FE, Curti C, Santos AC. Aromatic antiepileptic drugs and mitochondrial toxicity: effects on mitochondria isolated from rat liver. Toxicol In Vitro. 2008;22(5):1143\u201352.","journal-title":"Toxicol In Vitro."},{"issue":"5","key":"378_CR176","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.20079","volume":"55","author":"RK Naviaux","year":"2004","unstructured":"Naviaux RK, Nguyen KV. POLG mutations associated with Alpers\u2019 syndrome and mitochondrial DNA depletion. Ann Neurol. 2004;55(5):706\u201312.","journal-title":"Ann Neurol."},{"issue":"15","key":"378_CR177","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1016\/j.clinbiochem.2013.06.012","volume":"46","author":"RM Nanau","year":"2013","unstructured":"Nanau RM, Neuman MG. Adverse drug reactions induced by valproic acid. Clin Biochem. 2013;46(15):1323\u201338.","journal-title":"Clin Biochem."},{"issue":"1","key":"378_CR178","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1528-1157.1998.tb01268.x","volume":"39","author":"E. Perucca","year":"1998","unstructured":"Perucca E, Gram L, Avanzini G, Dulac O. Antiepileptic drugs as a cause of worsening seizures. Epilepsia. 1998;39(1):5\u201317.","journal-title":"Epilepsia"}],"container-title":["Pediatric Drugs"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40272-019-00378-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s40272-019-00378-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40272-019-00378-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T02:48:34Z","timestamp":1722307714000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40272-019-00378-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,14]]},"references-count":178,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["378"],"URL":"https:\/\/doi.org\/10.1007\/s40272-019-00378-y","relation":{},"ISSN":["1174-5878","1179-2019"],"issn-type":[{"value":"1174-5878","type":"print"},{"value":"1179-2019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,14]]},"assertion":[{"value":"14 January 2020","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"This work was supported by National Institutes of Health grants NS108765 and NS1089296.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"Gregory L. Holmes has no conflicts of interest that are directly relevant to the content of this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}