{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:15:00Z","timestamp":1790313300372,"version":"4.1.0"},"reference-count":101,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T00:00:00Z","timestamp":1576281600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T00:00:00Z","timestamp":1576281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1007\/s10072-019-04190-x","type":"journal-article","created":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T12:05:42Z","timestamp":1576325142000},"page":"749-761","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Epilepsy and brain channelopathies from infancy to adulthood"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5683-1941","authenticated-orcid":false,"given":"Emanuele","family":"Bartolini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Campostrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Kiferle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Pradella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Rosati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna","family":"Chinthapalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Palumbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,12,14]]},"reference":[{"key":"4190_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3345\/kjp.2014.57.1.1","volume":"57","author":"J-B Kim","year":"2014","unstructured":"Kim J-B (2014) Channelopathies. Korean J Pediatr 57:1\u201318. https:\/\/doi.org\/10.3345\/kjp.2014.57.1.1","journal-title":"Korean J Pediatr"},{"key":"4190_CR2","volume-title":"Ion channels: from structure to function","author":"JNC Kew","year":"2010","unstructured":"Kew JNC, Davies CH (2010) Ion channels: from structure to function, 2nd edn. Oxford University Press, Oxford New York","edition":"2"},{"key":"4190_CR3","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.neuropharm.2017.06.029","volume":"132","author":"H Seitter","year":"2018","unstructured":"Seitter H, Koschak A (2018) Relevance of tissue specific subunit expression in channelopathies. Neuropharmacology 132:58\u201370. https:\/\/doi.org\/10.1016\/j.neuropharm.2017.06.029","journal-title":"Neuropharmacology"},{"key":"4190_CR4","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.neuron.2010.10.008","volume":"68","author":"DP Ryan","year":"2010","unstructured":"Ryan DP, Pt\u00e1\u010dek LJ (2010) Episodic neurological channelopathies. Neuron 68:282\u2013292. https:\/\/doi.org\/10.1016\/j.neuron.2010.10.008","journal-title":"Neuron"},{"key":"4190_CR5","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1038\/ng1095-201","volume":"11","author":"OK Steinlein","year":"1995","unstructured":"Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor \u03b14 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201\u2013203. https:\/\/doi.org\/10.1038\/ng1095-201","journal-title":"Nat Genet"},{"key":"4190_CR6","doi-asserted-by":"publisher","first-page":"192","DOI":"10.5698\/1535-7511-15.4.192","volume":"15","author":"SF Berkovic","year":"2015","unstructured":"Berkovic SF (2015) Genetics of epilepsy in clinical practice. Epilepsy Curr 15:192\u2013196. https:\/\/doi.org\/10.5698\/1535-7511-15.4.192","journal-title":"Epilepsy Curr"},{"key":"4190_CR7","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.neulet.2017.01.014","volume":"667","author":"S Balestrini","year":"2018","unstructured":"Balestrini S, Sisodiya SM (2018) Pharmacogenomics in epilepsy. Neurosci Lett 667:27\u201339. https:\/\/doi.org\/10.1016\/j.neulet.2017.01.014","journal-title":"Neurosci Lett"},{"key":"4190_CR8","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1113\/expphysiol.2013.071969","volume":"99","author":"WA Catterall","year":"2014","unstructured":"Catterall WA (2014) Structure and function of voltage-gated sodium channels at atomic resolution: voltage-gated sodium channels at atomic resolution. Exp Physiol 99:35\u201351. https:\/\/doi.org\/10.1113\/expphysiol.2013.071969","journal-title":"Exp Physiol"},{"key":"4190_CR9","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1111\/j.1528-1167.2010.02640.x","volume":"51","author":"A Escayg","year":"2010","unstructured":"Escayg A, Goldin AL (2010) Sodium channel SCN1A and epilepsy: mutations and mechanisms: sodium channel SCN1A and epilepsy. Epilepsia 51:1650\u20131658. https:\/\/doi.org\/10.1111\/j.1528-1167.2010.02640.x","journal-title":"Epilepsia"},{"key":"4190_CR10","doi-asserted-by":"publisher","first-page":"468","DOI":"10.4161\/chan.26023","volume":"7","author":"CS Cheah","year":"2013","unstructured":"Cheah CS, Westenbroek RE, Roden WH, Kalume F, Oakley JC, Jansen LA, Catterall WA (2013) Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels 7:468\u2013472. https:\/\/doi.org\/10.4161\/chan.26023","journal-title":"Channels"},{"key":"4190_CR11","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.1086\/320609","volume":"68","author":"L Claes","year":"2001","unstructured":"Claes L, Del-Favero J, Ceulemans B et al (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327\u20131332. https:\/\/doi.org\/10.1086\/320609","journal-title":"Am J Hum Genet"},{"key":"4190_CR12","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nature12439","volume":"501","author":"Epi4K Consortium, Epilepsy Phenome\/Genome Project","year":"2013","unstructured":"Epi4K Consortium, Epilepsy Phenome\/Genome Project (2013) De novo mutations in epileptic encephalopathies. Nature 501:217\u2013221. https:\/\/doi.org\/10.1038\/nature12439","journal-title":"Nature"},{"key":"4190_CR13","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2019.05.020","volume":"105","author":"Y-CA Feng","year":"2019","unstructured":"Feng Y-CA, Howrigan DP, Abbott LE et al (2019) Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. Am J Hum Genet 105:267\u2013282. https:\/\/doi.org\/10.1016\/j.ajhg.2019.05.020","journal-title":"Am J Hum Genet"},{"key":"4190_CR14","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1111\/j.1528-1167.2011.02997.x","volume":"52","author":"C Marini","year":"2011","unstructured":"Marini C, Scheffer IE, Nabbout R, Suls A, de Jonghe P, Zara F, Guerrini R (2011) The genetics of Dravet syndrome: genetics of Dravet syndrome. Epilepsia 52:24\u201329. https:\/\/doi.org\/10.1111\/j.1528-1167.2011.02997.x","journal-title":"Epilepsia"},{"key":"4190_CR15","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1038\/nn1754","volume":"9","author":"FH Yu","year":"2006","unstructured":"Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight G, Scheuer T, Catterall WA (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9:1142\u20131149. https:\/\/doi.org\/10.1038\/nn1754","journal-title":"Nat Neurosci"},{"key":"4190_CR16","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.02994.x","volume":"52","author":"C Dravet","year":"2011","unstructured":"Dravet C (2011) The core Dravet syndrome phenotype: core Dravet syndrome. Epilepsia 52:3\u20139. https:\/\/doi.org\/10.1111\/j.1528-1167.2011.02994.x","journal-title":"Epilepsia"},{"key":"4190_CR17","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1016\/S1474-4422(10)70107-1","volume":"9","author":"AM McIntosh","year":"2010","unstructured":"McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF (2010) Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 9:592\u2013598. https:\/\/doi.org\/10.1016\/S1474-4422(10)70107-1","journal-title":"Lancet Neurol"},{"key":"4190_CR18","doi-asserted-by":"publisher","first-page":"e699","DOI":"10.1542\/peds.2010-0887","volume":"128","author":"IS Reyes","year":"2011","unstructured":"Reyes IS, Hsieh DT, Laux LC, Wilfong AA (2011) Alleged cases of vaccine encephalopathy rediagnosed years later as Dravet syndrome. Pediatrics 128:e699\u2013e702. https:\/\/doi.org\/10.1542\/peds.2010-0887","journal-title":"Pediatrics"},{"issue":"Suppl 1","key":"4190_CR19","doi-asserted-by":"publisher","first-page":"S5","DOI":"10.1016\/j.ejpn.2012.04.007","volume":"16","author":"IE Scheffer","year":"2012","unstructured":"Scheffer IE (2012) Diagnosis and long-term course of Dravet syndrome. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 16(Suppl 1):S5\u2013S8. https:\/\/doi.org\/10.1016\/j.ejpn.2012.04.007","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"key":"4190_CR20","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.yebeh.2017.05.037","volume":"74","author":"E Losito","year":"2017","unstructured":"Losito E, Kuchenbuch M, Chemaly N et al (2017) Age-related \u201csleep\/nocturnal\u201d tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet syndrome. Epilepsy Behav EB 74:33\u201340. https:\/\/doi.org\/10.1016\/j.yebeh.2017.05.037","journal-title":"Epilepsy Behav EB"},{"key":"4190_CR21","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.yebeh.2015.05.008","volume":"47","author":"NE Verbeek","year":"2015","unstructured":"Verbeek NE, Wassenaar M, van Campen JS et al (2015) Seizure precipitants in Dravet syndrome: what events and activities are specifically provocative compared with other epilepsies? Epilepsy Behav 47:39\u201344. https:\/\/doi.org\/10.1016\/j.yebeh.2015.05.008","journal-title":"Epilepsy Behav"},{"key":"4190_CR22","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.clinph.2016.11.021","volume":"128","author":"N Verbeek","year":"2017","unstructured":"Verbeek N, Kasteleijn-Nolst Trenit\u00e9 D, Wassenaar M et al (2017) Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. Clin Neurophysiol Off J Int Fed Clin Neurophysiol 128:323\u2013330. https:\/\/doi.org\/10.1016\/j.clinph.2016.11.021","journal-title":"Clin Neurophysiol Off J Int Fed Clin Neurophysiol"},{"key":"4190_CR23","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.yebeh.2018.11.029","volume":"90","author":"C Sinoo","year":"2019","unstructured":"Sinoo C, de Lange IM-L, Westers P et al (2019) Behavior problems and health-related quality of life in Dravet syndrome. Epilepsy Behav EB 90:217\u2013227. https:\/\/doi.org\/10.1016\/j.yebeh.2018.11.029","journal-title":"Epilepsy Behav EB"},{"issue":"Suppl 1","key":"4190_CR24","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1016\/j.ejpn.2012.04.006","volume":"16","author":"R Guerrini","year":"2012","unstructured":"Guerrini R (2012) Dravet syndrome: the main issues. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 16(Suppl 1):S1\u2013S4. https:\/\/doi.org\/10.1016\/j.ejpn.2012.04.006","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"issue":"Suppl 2","key":"4190_CR25","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/j.1528-1167.2011.03001.x","volume":"52","author":"P Genton","year":"2011","unstructured":"Genton P, Velizarova R, Dravet C (2011) Dravet syndrome: the long-term outcome. Epilepsia 52(Suppl 2):44\u201349. https:\/\/doi.org\/10.1111\/j.1528-1167.2011.03001.x","journal-title":"Epilepsia"},{"key":"4190_CR26","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1111\/j.1528-1167.2009.02466.x","volume":"51","author":"M Akiyama","year":"2010","unstructured":"Akiyama M, Kobayashi K, Yoshinaga H, Ohtsuka Y (2010) A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia 51:1043\u20131052. https:\/\/doi.org\/10.1111\/j.1528-1167.2009.02466.x","journal-title":"Epilepsia"},{"key":"4190_CR27","doi-asserted-by":"publisher","first-page":"2250","DOI":"10.1212\/WNL.0000000000000521","volume":"82","author":"A Fasano","year":"2014","unstructured":"Fasano A, Borlot F, Lang AE, Andrade DM (2014) Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology 82:2250\u20132251. https:\/\/doi.org\/10.1212\/WNL.0000000000000521","journal-title":"Neurology"},{"key":"4190_CR28","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1212\/WNL.0000000000002859","volume":"87","author":"C Gitiaux","year":"2016","unstructured":"Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, Nabbout R (2016) Motor neuropathy contributes to crouching in patients with Dravet syndrome. Neurology 87:277\u2013281. https:\/\/doi.org\/10.1212\/WNL.0000000000002859","journal-title":"Neurology"},{"key":"4190_CR29","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/S1474-4422(11)70048-5","volume":"10","author":"MB Russell","year":"2011","unstructured":"Russell MB, Ducros A (2011) Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol 10:457\u2013470. https:\/\/doi.org\/10.1016\/S1474-4422(11)70048-5","journal-title":"Lancet Neurol"},{"key":"4190_CR30","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1111\/j.1468-2982.2008.01721.x","volume":"29","author":"M-J Castro","year":"2009","unstructured":"Castro M-J, Stam A, Lemos C, de Vries B, Vanmolkot KR, Barros J, Terwindt GM, Frants RR, Sequeiros J, Ferrari MD, Pereira-Monteiro JM, van den Maagdenberg A (2009) First mutation in the voltage-gated Na v 1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia 29:308\u2013313. https:\/\/doi.org\/10.1111\/j.1468-2982.2008.01721.x","journal-title":"Cephalalgia"},{"key":"4190_CR31","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1093\/brain\/awq057","volume":"133","author":"Y Liao","year":"2010","unstructured":"Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, de Jonghe P, Lerche H (2010) Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain J Neurol 133:1403\u20131414. https:\/\/doi.org\/10.1093\/brain\/awq057","journal-title":"Brain J Neurol"},{"key":"4190_CR32","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1212\/WNL.0000000000001926","volume":"85","author":"KB Howell","year":"2015","unstructured":"Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE (2015) SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 85:958\u2013966. https:\/\/doi.org\/10.1212\/WNL.0000000000001926","journal-title":"Neurology"},{"key":"4190_CR33","doi-asserted-by":"publisher","unstructured":"Wolff M, Johannesen KM, Hedrich UBS et al (2017) Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. https:\/\/doi.org\/10.1093\/brain\/awx054","DOI":"10.1093\/brain\/awx054"},{"key":"4190_CR34","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1212\/WNL.0b013e3182a43e57","volume":"81","author":"K Nakamura","year":"2013","unstructured":"Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barrag\u00e1n DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H (2013) Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 81:992\u2013998. https:\/\/doi.org\/10.1212\/WNL.0b013e3182a43e57","journal-title":"Neurology"},{"key":"4190_CR35","doi-asserted-by":"publisher","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J de Ligt","year":"2012","unstructured":"de Ligt J, Willemsen MH, van Bon BWM, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout A, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921\u20131929. https:\/\/doi.org\/10.1056\/NEJMoa1206524","journal-title":"N Engl J Med"},{"key":"4190_CR36","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch A, Wieczorek D, Graf E et al (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380:1674\u20131682. https:\/\/doi.org\/10.1016\/S0140-6736(12)61480-9","journal-title":"Lancet"},{"key":"4190_CR37","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/j.neuron.2015.11.009","volume":"88","author":"AM D\u2019Gama","year":"2015","unstructured":"D\u2019Gama AM, Pochareddy S, Li M et al (2015) Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms. Neuron 88:910\u2013917. https:\/\/doi.org\/10.1016\/j.neuron.2015.11.009","journal-title":"Neuron"},{"key":"4190_CR38","doi-asserted-by":"publisher","first-page":"e14698","DOI":"10.1097\/MD.0000000000014698","volume":"98","author":"Q Huang","year":"2019","unstructured":"Huang Q, Yu L, Ma M, Qi H, Wu Y (2019) Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: case report. Medicine (Baltimore) 98:e14698. https:\/\/doi.org\/10.1097\/MD.0000000000014698","journal-title":"Medicine (Baltimore)"},{"key":"4190_CR39","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.ejpn.2019.03.001","volume":"23","author":"N Schwarz","year":"2019","unstructured":"Schwarz N, Bast T, Gaily E et al (2019) Clinical and genetic spectrum of SCN2A-associated episodic ataxia. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc 23:438\u2013447. https:\/\/doi.org\/10.1016\/j.ejpn.2019.03.001","journal-title":"Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc"},{"key":"4190_CR40","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1212\/WNL.0000000000001211","volume":"84","author":"J Larsen","year":"2015","unstructured":"Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, J\u00e4hn JA, Jepsen B, Gill D, D\u00f6cker M, Biskup S, McMahon J, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Dj\u00e9mi\u00e9 T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, M\u00f8ller RS, EuroEPINOMICS RES Consortium CRP (2015) The phenotypic spectrum of SCN8A encephalopathy. Neurology 84:480\u2013489. https:\/\/doi.org\/10.1212\/WNL.0000000000001211","journal-title":"Neurology"},{"key":"4190_CR41","doi-asserted-by":"publisher","first-page":"e1112","DOI":"10.1212\/WNL.0000000000006199","volume":"91","author":"E Gardella","year":"2018","unstructured":"Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, B\u00f6lsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, M\u00f8ller RS (2018) The phenotype of SCN8A developmental and epileptic encephalopathy. Neurology 91:e1112\u2013e1124. https:\/\/doi.org\/10.1212\/WNL.0000000000006199","journal-title":"Neurology"},{"key":"4190_CR42","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1002\/ana.24580","volume":"79","author":"E Gardella","year":"2016","unstructured":"Gardella E, Becker F, M\u00f8ller RS et al (2016) Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation: BFIS, PKD, and SCN8A mutation. Ann Neurol 79:428\u2013436. https:\/\/doi.org\/10.1002\/ana.24580","journal-title":"Ann Neurol"},{"key":"4190_CR43","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1002\/ana.24580","volume":"79","author":"E Gardella","year":"2016","unstructured":"Gardella E, Becker F, M\u00f8ller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altm\u00fcller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, N\u00fcrnberg P, Mang Y, Bakke M\u00f8ller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG (2016) Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 79:428\u2013436. https:\/\/doi.org\/10.1002\/ana.24580","journal-title":"Ann Neurol"},{"key":"4190_CR44","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.yebeh.2019.03.043","volume":"96","author":"M Trivisano","year":"2019","unstructured":"Trivisano M, Pavia GC, Ferretti A et al (2019) Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy. Epilepsy Behav 96:219\u2013223. https:\/\/doi.org\/10.1016\/j.yebeh.2019.03.043","journal-title":"Epilepsy Behav"},{"key":"4190_CR45","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1111\/epi.14727","volume":"60","author":"J Denis","year":"2019","unstructured":"Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-Fran\u00e7ois L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M (2019) Clinical study of 19 patients with SCN8A-related epilepsy: two modes of onset regarding EEG and seizures. Epilepsia 60:845\u2013856. https:\/\/doi.org\/10.1111\/epi.14727","journal-title":"Epilepsia"},{"key":"4190_CR46","volume-title":"GeneReviews\u00ae","author":"MF Hammer","year":"1993","unstructured":"Hammer MF, Wagnon JL, Mefford HC, Meisler MH (1993) SCN8A-related epilepsy with encephalopathy. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews\u00ae. University of Washington, Seattle"},{"key":"4190_CR47","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1111\/epi.14705","volume":"60","author":"KM Johannesen","year":"2019","unstructured":"Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, B\u00fcrki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Br\u00fcnger T, Zara F, Striano P, Rubboli G, M\u00f8ller RS (2019) The spectrum of intermediate SCN8A-related epilepsy. Epilepsia 60:830\u2013844. https:\/\/doi.org\/10.1111\/epi.14705","journal-title":"Epilepsia"},{"key":"4190_CR48","doi-asserted-by":"publisher","first-page":"12838","DOI":"10.1073\/pnas.1612746113","volume":"113","author":"CR Frasier","year":"2016","unstructured":"Frasier CR, Wagnon JL, Bao YO et al (2016) Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. Proc Natl Acad Sci U S A 113:12838\u201312843. https:\/\/doi.org\/10.1073\/pnas.1612746113","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4190_CR49","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1007\/s13311-015-0372-8","volume":"13","author":"RS Boerma","year":"2016","unstructured":"Boerma RS, Braun KP, van de Broek MPH et al (2016) Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach. Neurotherapeutics 13:192\u2013197. https:\/\/doi.org\/10.1007\/s13311-015-0372-8","journal-title":"Neurotherapeutics"},{"key":"4190_CR50","doi-asserted-by":"publisher","first-page":"3677","DOI":"10.1007\/s00018-015-1948-5","volume":"72","author":"Q Kuang","year":"2015","unstructured":"Kuang Q, Purhonen P, Hebert H (2015) Structure of potassium channels. Cell Mol Life Sci 72:3677\u20133693. https:\/\/doi.org\/10.1007\/s00018-015-1948-5","journal-title":"Cell Mol Life Sci"},{"key":"4190_CR51","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1126\/science.279.5349.403","volume":"279","author":"C Biervert","year":"1998","unstructured":"Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403\u2013406","journal-title":"Science"},{"key":"4190_CR52","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/ng0198-53","volume":"18","author":"C Charlier","year":"1998","unstructured":"Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53\u201355. https:\/\/doi.org\/10.1038\/ng0198-53","journal-title":"Nat Genet"},{"key":"4190_CR53","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/S0920-1211(03)00037-8","volume":"54","author":"K Dedek","year":"2003","unstructured":"Dedek K, Fusco L, Teloy N, Steinlein OK (2003) Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 54:21\u201327","journal-title":"Epilepsy Res"},{"key":"4190_CR54","doi-asserted-by":"publisher","first-page":"e15","DOI":"10.1111\/epi.12887","volume":"56","author":"F Miceli","year":"2015","unstructured":"Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S (2015) A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia 56:e15\u2013e20. https:\/\/doi.org\/10.1111\/epi.12887","journal-title":"Epilepsia"},{"key":"4190_CR55","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/ana.22644","volume":"71","author":"S Weckhuysen","year":"2012","unstructured":"Weckhuysen S, Mandelstam S, Suls A et al (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71:15\u201325. https:\/\/doi.org\/10.1002\/ana.22644","journal-title":"Ann Neurol"},{"key":"4190_CR56","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1016\/S1474-4422(06)70626-3","volume":"5","author":"Y Ben-Ari","year":"2006","unstructured":"Ben-Ari Y, Holmes GL (2006) Effects of seizures on developmental processes in the immature brain. Lancet Neurol 5:1055\u20131063. https:\/\/doi.org\/10.1016\/S1474-4422(06)70626-3","journal-title":"Lancet Neurol"},{"key":"4190_CR57","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/aps.2015.131","volume":"37","author":"J Wang","year":"2016","unstructured":"Wang J, Li Y (2016) KCNQ potassium channels in sensory system and neural circuits. Acta Pharmacol Sin 37:25\u201333. https:\/\/doi.org\/10.1038\/aps.2015.131","journal-title":"Acta Pharmacol Sin"},{"key":"4190_CR58","doi-asserted-by":"publisher","first-page":"e96","DOI":"10.1212\/NXG.0000000000000096","volume":"2","author":"JJ Millichap","year":"2016","unstructured":"Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM, Marsh E, Nangia S, Narayanan V, Ortiz-Gonzalez XR, Patterson MC, Pearl PL, Porter B, Ramsey K, McGinnis E, Taglialatela M, Tracy M, Tran B, Venkatesan C, Weckhuysen S, Cooper EC (2016) KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet 2:e96. https:\/\/doi.org\/10.1212\/NXG.0000000000000096","journal-title":"Neurol Genet"},{"key":"4190_CR59","doi-asserted-by":"publisher","first-page":"2599","DOI":"10.1523\/JNEUROSCI.4314-05.2006","volume":"26","author":"Z Pan","year":"2006","unstructured":"Pan Z (2006) A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 26:2599\u20132613. https:\/\/doi.org\/10.1523\/JNEUROSCI.4314-05.2006","journal-title":"J Neurosci"},{"key":"4190_CR60","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1038\/ng1585","volume":"37","author":"W Du","year":"2005","unstructured":"Du W, Bautista JF, Yang H et al (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 37:733\u2013738. https:\/\/doi.org\/10.1038\/ng1585","journal-title":"Nat Genet"},{"key":"4190_CR61","doi-asserted-by":"publisher","unstructured":"de Kovel CGF, Syrbe S, Brilstra EH et al (2017) Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes. JAMA Neurol. https:\/\/doi.org\/10.1001\/jamaneurol.2017.1714","DOI":"10.1001\/jamaneurol.2017.1714"},{"key":"4190_CR62","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1038\/sj.ejhg.5201629","volume":"14","author":"AL Gloyn","year":"2006","unstructured":"Gloyn AL, Diatloff-Zito C, Edghill EL, Bellann\u00e9-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 14:824\u2013830. https:\/\/doi.org\/10.1038\/sj.ejhg.5201629","journal-title":"Eur J Hum Genet"},{"key":"4190_CR63","doi-asserted-by":"publisher","first-page":"1578","DOI":"10.1093\/brain\/awt073","volume":"136","author":"A McTague","year":"2013","unstructured":"McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R (2013) Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 136:1578\u20131591. https:\/\/doi.org\/10.1093\/brain\/awt073","journal-title":"Brain"},{"key":"4190_CR64","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1136\/jmedgenet-2015-103508","volume":"53","author":"CX Lim","year":"2016","unstructured":"Lim CX, Ricos MG, Dibbens LM, Heron SE (2016) KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet 53:217\u2013225. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103508","journal-title":"J Med Genet"},{"key":"4190_CR65","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1002\/ana.24128","volume":"75","author":"CJ Milligan","year":"2014","unstructured":"Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S (2014) KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine: KCNT1 and human epilepsy. Ann Neurol 75:581\u2013590. https:\/\/doi.org\/10.1002\/ana.24128","journal-title":"Ann Neurol"},{"key":"4190_CR66","doi-asserted-by":"publisher","first-page":"e114","DOI":"10.1111\/epi.13071","volume":"56","author":"RS M\u00f8ller","year":"2015","unstructured":"M\u00f8ller RS, Heron SE, Larsen LHG, Lim CX, Ricos MG, Bayly MA, van Kempen M, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon J, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM (2015) Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia 56:e114\u2013e120. https:\/\/doi.org\/10.1111\/epi.13071","journal-title":"Epilepsia"},{"key":"4190_CR67","doi-asserted-by":"publisher","unstructured":"Juang J-MJ, Lu T-P, Lai L-C et al (2014) Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome. Sci Rep 4. https:\/\/doi.org\/10.1038\/srep06733","DOI":"10.1038\/srep06733"},{"key":"4190_CR68","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.neuron.2014.03.016","volume":"82","author":"BA Simms","year":"2014","unstructured":"Simms BA, Zamponi GW (2014) Neuronal voltage-gated calcium channels: structure, function, and dysfunction. Neuron 82:24\u201345. https:\/\/doi.org\/10.1016\/j.neuron.2014.03.016","journal-title":"Neuron"},{"key":"4190_CR69","doi-asserted-by":"publisher","first-page":"2682","DOI":"10.1093\/brain\/awh301","volume":"127","author":"P Imbrici","year":"2004","unstructured":"Imbrici P, Jaffe SL, Eunson LH, Davies NP, Herd C, Robertson R, Kullmann DM, Hanna MG (2004) Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain J Neurol 127:2682\u20132692. https:\/\/doi.org\/10.1093\/brain\/awh301","journal-title":"Brain J Neurol"},{"key":"4190_CR70","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-017-02554-x","volume":"7","author":"C Sintas","year":"2017","unstructured":"Sintas C, Carre\u00f1o O, Fern\u00e0ndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-Le\u00f3n E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B (2017) Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxia. Sci Rep 7:1\u20139. https:\/\/doi.org\/10.1038\/s41598-017-02554-x","journal-title":"Sci Rep"},{"key":"4190_CR71","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.yebeh.2009.12.017","volume":"17","author":"A Zangaladze","year":"2010","unstructured":"Zangaladze A, Asadi-Pooya AA, Ashkenazi A, Sperling MR (2010) Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. Epilepsy Behav 17:293\u2013295. https:\/\/doi.org\/10.1016\/j.yebeh.2009.12.017","journal-title":"Epilepsy Behav"},{"key":"4190_CR72","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1159\/000381827","volume":"7","author":"M Bruun","year":"2015","unstructured":"Bruun M, Hjermind LE, Thomsen C et al (2015) Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. Case Rep Neurol 7:84\u201389. https:\/\/doi.org\/10.1159\/000381827","journal-title":"Case Rep Neurol"},{"key":"4190_CR73","doi-asserted-by":"publisher","first-page":"2173","DOI":"10.1002\/ajmg.a.37678","volume":"170","author":"K Reinson","year":"2016","unstructured":"Reinson K, \u00d5iglane-Shlik E, Talvik I et al (2016) Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A 170:2173\u20132176. https:\/\/doi.org\/10.1002\/ajmg.a.37678","journal-title":"Am J Med Genet A"},{"key":"4190_CR74","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.ajhg.2016.06.003","volume":"99","author":"CT Myers","year":"2016","unstructured":"Myers CT, McMahon JM, Schneider AL et al (2016) De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet 99:287\u2013298. https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.003","journal-title":"Am J Hum Genet"},{"key":"4190_CR75","doi-asserted-by":"publisher","first-page":"5162","DOI":"10.1523\/JNEUROSCI.5442-12.2013","volume":"33","author":"T Maejima","year":"2013","unstructured":"Maejima T, Wollenweber P, Teusner LUC, Noebels JL, Herlitze S, Mark MD (2013) Postnatal loss of P\/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice. J Neurosci 33:5162\u20135174. https:\/\/doi.org\/10.1523\/JNEUROSCI.5442-12.2013","journal-title":"J Neurosci"},{"key":"4190_CR76","doi-asserted-by":"publisher","first-page":"4311","DOI":"10.1523\/JNEUROSCI.5342-10.2011","volume":"31","author":"MD Mark","year":"2011","unstructured":"Mark MD, Maejima T, Kuckelsberg D, Yoo JW, Hyde RA, Shah V, Gutierrez D, Moreno RL, Kruse W, Noebels JL, Herlitze S (2011) Delayed postnatal loss of P\/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1A mutations. J Neurosci 31:4311\u20134326. https:\/\/doi.org\/10.1523\/JNEUROSCI.5342-10.2011","journal-title":"J Neurosci"},{"key":"4190_CR77","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1016\/j.neurobiolaging.2007.04.005","volume":"29","author":"I Alonso","year":"2008","unstructured":"Alonso I, Marques JM, Sousa N, Sequeiros J, Olsson IA, Silveira I (2008) Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiol Aging 29:1733\u20131743. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2007.04.005","journal-title":"Neurobiol Aging"},{"key":"4190_CR78","doi-asserted-by":"publisher","first-page":"2485","DOI":"10.1093\/cercor\/bhp135","volume":"19","author":"FM Krienen","year":"2009","unstructured":"Krienen FM, Buckner RL (2009) Segregated fronto-cerebellar circuits revealed by intrinsic functional connectivity. Cereb Cortex 19:2485\u20132497. https:\/\/doi.org\/10.1093\/cercor\/bhp135","journal-title":"Cereb Cortex"},{"key":"4190_CR79","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1016\/j.celrep.2013.03.023","volume":"3","author":"E Galliano","year":"2013","unstructured":"Galliano E, Gao Z, Schonewille M, Todorov B, Simons E, Pop AS, D'Angelo E, van den Maagdenberg A, Hoebeek FE, de Zeeuw CI (2013) Silencing the majority of cerebellar granule cells uncovers their essential role in motor learning and consolidation. Cell Rep 3:1239\u20131251. https:\/\/doi.org\/10.1016\/j.celrep.2013.03.023","journal-title":"Cell Rep"},{"key":"4190_CR80","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/1750-1172-8-14","volume":"8","author":"S Fujioka","year":"2013","unstructured":"Fujioka S, Sundal C, Wszolek ZK (2013) Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 8:14. https:\/\/doi.org\/10.1186\/1750-1172-8-14","journal-title":"Orphanet J Rare Dis"},{"key":"4190_CR81","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/s00424-009-0772-x","volume":"460","author":"GW Zamponi","year":"2010","unstructured":"Zamponi GW, Lory P, Perez-Reyes E (2010) Role of voltage-gated calcium channels in epilepsy. Pfl\u00fcg Arch - Eur J Physiol 460:395\u2013403. https:\/\/doi.org\/10.1007\/s00424-009-0772-x","journal-title":"Pfl\u00fcg Arch - Eur J Physiol"},{"key":"4190_CR82","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1152\/physrev.00029.2008","volume":"89","author":"M Biel","year":"2009","unstructured":"Biel M, Wahl-Schott C, Michalakis S, Zong X (2009) Hyperpolarization-activated cation channels: from genes to function. Physiol Rev 89:847\u2013885. https:\/\/doi.org\/10.1152\/physrev.00029.2008","journal-title":"Physiol Rev"},{"key":"4190_CR83","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1212\/WNL.0b013e31827dec42","volume":"80","author":"EE Benarroch","year":"2013","unstructured":"Benarroch EE (2013) HCN channels: function and clinical implications. Neurology 80:304\u2013310. https:\/\/doi.org\/10.1212\/WNL.0b013e31827dec42","journal-title":"Neurology"},{"key":"4190_CR84","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1007\/s00439-016-1721-3","volume":"135","author":"M Lucariello","year":"2016","unstructured":"Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalf\u00f3 E, Dopazo J, Jurado P, Armstrong J, Esteller M (2016) Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet 135:1343\u20131354. https:\/\/doi.org\/10.1007\/s00439-016-1721-3","journal-title":"Hum Genet"},{"key":"4190_CR85","doi-asserted-by":"publisher","first-page":"3160","DOI":"10.1093\/brain\/awy263","volume":"141","author":"C Marini","year":"2018","unstructured":"Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Th\u00e9venon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carr\u00e9 W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerov\u00e1 J, La\u0161\u0161uthova P, \u0160terbov\u00e1 K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco J, Depienne C (2018) HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain 141:3160\u20133178. https:\/\/doi.org\/10.1093\/brain\/awy263","journal-title":"Brain"},{"key":"4190_CR86","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1038\/ng.2952","volume":"46","author":"C Nava","year":"2014","unstructured":"EuroEPINOMICS RES Consortium, Nava C, Dalle C et al (2014) De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet 46:640\u2013645. https:\/\/doi.org\/10.1038\/ng.2952","journal-title":"Nat Genet"},{"key":"4190_CR87","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.eplepsyres.2019.04.004","volume":"153","author":"JC DiFrancesco","year":"2019","unstructured":"DiFrancesco JC, Castellotti B, Milanesi R, Ragona F, Freri E, Canafoglia L, Franceschetti S, Ferrarese C, Magri S, Taroni F, Costa C, Labate A, Gambardella A, Solazzi R, Binda A, Rivolta I, di Gennaro G, Casciato S, D'Incerti L, Barbuti A, DiFrancesco D, Granata T, Gellera C (2019) HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature. Epilepsy Res 153:49\u201358. https:\/\/doi.org\/10.1016\/j.eplepsyres.2019.04.004","journal-title":"Epilepsy Res"},{"key":"4190_CR88","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1038\/ng1081","volume":"33","author":"M De Fusco","year":"2003","unstructured":"De Fusco M, Marconi R, Silvestri L et al (2003) Haploinsufficiency of ATP1A2 encoding the Na+\/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33:192\u2013196. https:\/\/doi.org\/10.1038\/ng1081","journal-title":"Nat Genet"},{"key":"4190_CR89","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1002\/ana.10674","volume":"54","author":"KRJ Vanmolkot","year":"2003","unstructured":"Vanmolkot KRJ, Kors EE, Hottenga J-J, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg A (2003) Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol 54:360\u2013366. https:\/\/doi.org\/10.1002\/ana.10674","journal-title":"Ann Neurol"},{"key":"4190_CR90","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/S0920-1211(00)00141-8","volume":"41","author":"S Hirose","year":"2000","unstructured":"Hirose S, Okada M, Kaneko S, Mitsudome A (2000) Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis. Epilepsy Res 41:191\u2013204","journal-title":"Epilepsy Res"},{"issue":"Pt 6","key":"4190_CR91","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1093\/brain\/122.6.1017","volume":"122","author":"F Provini","year":"1999","unstructured":"Provini F, Plazzi G, Tinuper P et al (1999) Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain J Neurol 122(Pt 6):1017\u20131031","journal-title":"Brain J Neurol"},{"key":"4190_CR92","volume-title":"Jasper\u2019s basic mechanisms of the epilepsies","author":"OK Steinlein","year":"2012","unstructured":"Steinlein OK, Kaneko S, Hirose S (2012) Nicotinic acetylcholine receptor mutations. In: Noebels JL, Avoli M, Rogawski MA et al (eds) Jasper\u2019s basic mechanisms of the epilepsies, 4th edn. National Center for Biotechnology Information (US), Bethesda","edition":"4"},{"key":"4190_CR93","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1007\/s11910-013-0424-6","volume":"14","author":"L Nobili","year":"2014","unstructured":"Nobili L, Proserpio P, Combi R, Provini F, Plazzi G, Bisulli F, Tassi L, Tinuper P (2014) Nocturnal frontal lobe epilepsy. Curr Neurol Neurosci Rep 14:424. https:\/\/doi.org\/10.1007\/s11910-013-0424-6","journal-title":"Curr Neurol Neurosci Rep"},{"key":"4190_CR94","doi-asserted-by":"publisher","first-page":"1762","DOI":"10.1111\/epi.13863","volume":"58","author":"M Puligheddu","year":"2017","unstructured":"Puligheddu M, Melis M, Pillolla G et al (2017) Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy. Epilepsia 58:1762\u20131770. https:\/\/doi.org\/10.1111\/epi.13863","journal-title":"Epilepsia"},{"key":"4190_CR95","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1212\/WNL.0000000000003087","volume":"87","author":"K Johannesen","year":"2016","unstructured":"Johannesen K, Marini C, Pfeffer S et al (2016) Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies. Neurology 87:1140\u20131151. https:\/\/doi.org\/10.1212\/WNL.0000000000003087","journal-title":"Neurology"},{"key":"4190_CR96","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.neulet.2010.08.001","volume":"483","author":"WH Roden","year":"2010","unstructured":"Roden WH, Peugh LD, Jansen LA (2010) Altered GABAA receptor subunit expression and pharmacology in human Angelman syndrome cortex. Neurosci Lett 483:167\u2013172. https:\/\/doi.org\/10.1016\/j.neulet.2010.08.001","journal-title":"Neurosci Lett"},{"key":"4190_CR97","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/nature04089","volume":"438","author":"H Furukawa","year":"2005","unstructured":"Furukawa H, Singh SK, Mancusso R, Gouaux E (2005) Subunit arrangement and function in NMDA receptors. Nature 438:185\u2013192. https:\/\/doi.org\/10.1038\/nature04089","journal-title":"Nature"},{"key":"4190_CR98","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/ng.2727","volume":"45","author":"GL Carvill","year":"2013","unstructured":"Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 45:1073\u20131076. https:\/\/doi.org\/10.1038\/ng.2727","journal-title":"Nat Genet"},{"key":"4190_CR99","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1002\/acn3.39","volume":"1","author":"TM Pierson","year":"2014","unstructured":"Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA (2014) GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 1:190\u2013198. https:\/\/doi.org\/10.1002\/acn3.39","journal-title":"Ann Clin Transl Neurol"},{"key":"4190_CR100","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1002\/ana.24073","volume":"75","author":"JR Lemke","year":"2014","unstructured":"Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, H\u00f6rtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, de Jonghe P, Biskup S, Weckhuysen S (2014) GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy: GRIN2B mutations in epilepsy. Ann Neurol 75:147\u2013154. https:\/\/doi.org\/10.1002\/ana.24073","journal-title":"Ann Neurol"},{"key":"4190_CR101","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1007\/s00702-013-1125-7","volume":"121","author":"V Andreoli","year":"2014","unstructured":"Andreoli V, De Marco EV, Trecroci F et al (2014) Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer\u2019s disease. J Neural Transm Vienna Austria 1996 121:533\u2013542. https:\/\/doi.org\/10.1007\/s00702-013-1125-7","journal-title":"J Neural Transm Vienna Austria 1996"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-019-04190-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10072-019-04190-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-019-04190-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T00:23:36Z","timestamp":1607819016000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10072-019-04190-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,14]]},"references-count":101,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["4190"],"URL":"https:\/\/doi.org\/10.1007\/s10072-019-04190-x","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,14]]},"assertion":[{"value":"27 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 December 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 December 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The Authors state that this work has not received any funding and declare no relationships with any companies, whose products or services may be related to the subject matter of the article.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}