{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:28:39Z","timestamp":1787563719281,"version":"build-2736575974"},"reference-count":109,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T00:00:00Z","timestamp":1686614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NEXTGENERATIONEU (NGEU)","award":["PE0000006"],"award-info":[{"award-number":["PE0000006"]}]},{"name":"Ministry of University and Research","award":["PE0000006"],"award-info":[{"award-number":["PE0000006"]}]},{"name":"National Recovery and Resilience Plan","award":["PE0000006"],"award-info":[{"award-number":["PE0000006"]}]},{"name":"Italian Ministry of Health","award":["PE0000006"],"award-info":[{"award-number":["PE0000006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that has been reported under different acronyms and initially linked to four main loci: FAME1 (8q23.3\u2013q24.1), FAME 2 (2p11.1\u2013q12.1), FAME3 (5p15.31\u2013p15.1), and FAME4 (3q26.32\u20133q28). To date, it is known that the genetic mechanism underlying FAME consists of the expansion of similar non-coding pentanucleotide repeats, TTTCA and TTTTA, in different genes. FAME is characterized by cortical tremor and myoclonus usually manifesting within the second decade of life, and infrequent seizures by the third or fourth decade. Cortical tremor is the core feature of FAME and is considered part of a spectrum of cortical myoclonus. Neurophysiological investigations as jerk-locked back averaging (JLBA) and corticomuscular coherence analysis, giant somatosensory evoked potentials (SEPs), and the presence of long-latency reflex I (or C reflex) at rest support cortical tremor as the result of the sensorimotor cortex hyperexcitability. Furthermore, the application of transcranial magnetic stimulation (TMS) protocols in FAME patients has recently shown that inhibitory circuits are also altered within the primary somatosensory cortex and the concomitant involvement of subcortical networks. Moreover, neuroimaging studies and postmortem autoptic studies indicate cerebellar alterations and abnormal functional connectivity between the cerebellum and cerebrum in FAME. Accordingly, the pathophysiological mechanism underlying FAME has been hypothesized to reside in decreased sensorimotor cortical inhibition through dysfunction of the cerebellar\u2013thalamic\u2013cortical loop, secondary to primary cerebellar pathology. In this context, the non-coding pentameric expansions have been proposed to cause cerebellar damage through an RNA-mediated toxicity mechanism. The elucidation of the underlying pathological mechanisms of FAME paves the way to novel therapeutic possibilities, such as RNA-targeting treatments, possibly applicable to other neurodegenerative non-coding disorders.<\/jats:p>","DOI":"10.3390\/cells12121617","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T01:32:15Z","timestamp":1686706335000},"page":"1617","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar\u2013Thalamic\u2013Cortical Loop"],"prefix":"10.3390","volume":"12","author":[{"given":"Claudia","family":"Cuccurullo","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology, Federico II University of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16126 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-3065","authenticated-orcid":false,"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology, Federico II University of Naples, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1212\/WNL.40.10.1561","article-title":"Cortical Tremor: A Variant of Cortical Reflex Myoclonus","volume":"40","author":"Ikeda","year":"1990","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/mus.880110902","article-title":"AAEE minimonograph #30: Electrophysiologic studies of myoclonus","volume":"11","author":"Shibasaki","year":"1988","journal-title":"Muscle Nerve"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/brain\/110.5.1359","article-title":"Generator mechanisms of giant somatosensory evoked potentials in cortical reflex myoclonus","volume":"110","author":"Kakigi","year":"1987","journal-title":"Brain"},{"key":"ref_4","first-page":"1491","article-title":"A family of familial myoclonic epilepsy characterized by middle-adult onset presenting with finger tremorous involuntary movements and benign course","volume":"25","author":"Uyama","year":"1985","journal-title":"Clin. Neurol."},{"key":"ref_5","first-page":"281","article-title":"Familial adult myoclonic epilepsy (FAME)","volume":"95","author":"Uyama","year":"2005","journal-title":"Adv. Neurol."},{"key":"ref_6","first-page":"1","article-title":"A clinical study and neuropathological findings of a familial disease with myoclonus and epilepsy. The nosological place of a familial essential myoclonus and epilepsy (FEME)","volume":"92","author":"Inazuki","year":"1990","journal-title":"Seishin-Shinkeigaku"},{"key":"ref_7","first-page":"1","article-title":"Benign adult familial myoclonic epilepsy (BAFME)","volume":"17","author":"Yasuda","year":"1991","journal-title":"Kawasaki Med. J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S1353-8020(97)00001-1","article-title":"Familial cortical tremor with epilepsy","volume":"3","author":"Okuma","year":"1997","journal-title":"Park. Relat. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0303-8467(98)00003-1","article-title":"Familial cortical tremor with epilepsy: An underrecognized familial tremor","volume":"100","author":"Okuma","year":"1998","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/mds.870120316","article-title":"Familial cortical myoclonic tremor as unique form of cortical reflex myoclonus","volume":"12","author":"Terada","year":"1997","journal-title":"Mov. Disord."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1086\/302535","article-title":"Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1","volume":"65","author":"Mikami","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1212\/WNL.53.6.1180","article-title":"Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24","volume":"53","author":"Plaster","year":"1999","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1001\/archneur.55.12.1569","article-title":"Familial cortical tremor, epilepsy and mental retardation","volume":"55","author":"Maurizio","year":"1998","journal-title":"Arch. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1093\/brain\/124.12.2459","article-title":"Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial seizures and generalized seizures. A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2","volume":"124","author":"Guerrini","year":"2001","journal-title":"Brain"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1212\/01.WNL.0000055874.24000.4A","article-title":"Benign adult familial myoclonic epilepsy. Genetic heterogeneity and allelelism with ADCME","volume":"60","author":"Striano","year":"2003","journal-title":"Neurology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/j.0013-9580.2004.39903.x","article-title":"A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2","volume":"45","author":"Striano","year":"2004","journal-title":"Epilepsia"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1212\/WNL.58.6.941","article-title":"Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)","volume":"58","author":"Laubage","year":"2002","journal-title":"Neurology"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s00415-002-0729-x","article-title":"A Dutch family with familial cortical tremor with epilepsy. Clinical characteristics and exclusion of linkage to chromosome 8q23.3-q24.1","volume":"249","author":"Callenbach","year":"2002","journal-title":"J. Neurol."},{"key":"ref_19","first-page":"128","article-title":"A Dutch family with \u2018Familial Cortical Tremor with Epilepsy\u2019: Exclusion of linkage to chromosomes 8q and 2p [abstract]","volume":"43","author":"Brouwer","year":"2002","journal-title":"Epilepsia"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1600-0404.2005.00385.x","article-title":"Autosomal dominant cortical tremor, myoclonus and epilepsy: Many syndromes, one phenotype","volume":"111","author":"Striano","year":"2005","journal-title":"Acta Neurol. Scand."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/mds.20413","article-title":"Familial cortical myoclonic tremor with epilepsy: A single syndromic classification for a group of pedigrees bearing common features","volume":"20","author":"Koelman","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1016\/j.neurol.2009.05.014","article-title":"Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family","volume":"165","author":"Magnin","year":"2009","journal-title":"Rev. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1212\/WNL.0b013e3181e396a8","article-title":"Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p","volume":"74","author":"Depienne","year":"2010","journal-title":"Neurology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.eplepsyres.2005.05.006","article-title":"Absence of linkage to 8q23.3-q24.1 and 2p11.1-q12.2 in a new BAFME pedigree in China: Indication of a third locus for BAFME","volume":"65","author":"Deng","year":"2005","journal-title":"Epilepsy Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s12013-014-9843-5","article-title":"A Chinese benign adult familial myoclonic epilepsy pedigree suggesting linkage to chromosome 5p15.31-p15.1","volume":"69","author":"Li","year":"2014","journal-title":"Cell Biochem. Biophys."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"215","DOI":"10.4103\/0028-3886.156283","article-title":"Genetic analysis of a Chinese family provides further evidence for linkage of familial cortical myoclonic tremor with epilepsy to 5p15.31-p15","volume":"63","author":"Liu","year":"2015","journal-title":"Neurol. India"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ejhg.2012.133","article-title":"A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28","volume":"21","author":"Yeetong","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1001\/archneurol.2011.584","article-title":"Familial adult myoclonic epilepsy: Recognition of mild phenotypes and refinement of the 2q locus","volume":"69","author":"Crompton","year":"2012","journal-title":"Arch. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"272","DOI":"10.5152\/npa.2016.14841","article-title":"Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy","volume":"53","author":"Matur","year":"2016","journal-title":"Noro Psikiyatr Ars."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"433","DOI":"10.4103\/0972-2327.144025","article-title":"Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India","volume":"17","author":"Sharma","year":"2014","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1111\/epi.13303","article-title":"Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community","volume":"57","author":"Mahadevan","year":"2016","journal-title":"Epilepsia"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1038\/s41431-020-0606-z","article-title":"Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families","volume":"28","author":"Bennett","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"33van Coller, R., van Rootselaar, A.F., Schutte, C., and van der Meyden, C.H. (2017). Familial cortical myoclonic tremor and epilepsy: Description of a new South African pedigree with 30 year follow up. Park. Relat. Disord., 38, 35\u201340.","DOI":"10.1016\/j.parkreldis.2017.02.016"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.1111\/j.1528-1167.2011.03349.x","article-title":"Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy","volume":"53","author":"Hitomi","year":"2012","journal-title":"Epilepsia"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.seizure.2019.03.009","article-title":"Familial adult myoclonic epilepsy: A new expansion repeats disorder","volume":"67","author":"Lagorio","year":"2019","journal-title":"Seizure"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1684\/epd.2016.0860","article-title":"Autosomal dominant cortical tremor, myoclonus and epilepsy","volume":"18","author":"Striano","year":"2016","journal-title":"Epileptic Disord."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"503","DOI":"10.5334\/tohm.434","article-title":"Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review","volume":"8","author":"Sharifi","year":"2018","journal-title":"Tremor Other Hyperkinet. Mov."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1111\/j.1528-1167.2006.00636.x","article-title":"Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree","volume":"47","author":"Gardella","year":"2006","journal-title":"Epilepsia"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/mds.20725","article-title":"Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor","volume":"21","author":"Bourdain","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4920","DOI":"10.1038\/s41467-019-12671-y","article-title":"Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2","volume":"10","author":"Corbett","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1111\/j.1528-1167.2008.01976.x","article-title":"Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy","volume":"50","author":"Suppa","year":"2009","journal-title":"Epilepsia"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1093\/brain\/awaa129","article-title":"Unravelling the enigma of cortical tremor and other forms of cortical myoclonus","volume":"143","author":"Latorre","year":"2020","journal-title":"Brain"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1111\/epi.12216","article-title":"A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype","volume":"54","author":"Licchetta","year":"2013","journal-title":"Epilepsia"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1053\/seiz.2000.0402","article-title":"Familial adult onset myoclonic epilepsy associated with migraine","volume":"9","author":"Saka","year":"2000","journal-title":"Seizure"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1053\/seiz.2001.0606","article-title":"Benign adult familial myoclonic epilepsy (BAFME) with night blindness","volume":"11","author":"Manabe","year":"2002","journal-title":"Seizure"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1111\/j.1528-1167.2011.03017.x","article-title":"Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy","volume":"52","author":"Coppola","year":"2011","journal-title":"Epilepsia"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1002\/mds.21738","article-title":"Decreased cortical inhibition and yet cerebellar pathology in \u2018familial cortical myoclonic tremor with epilepsy\u2019","volume":"22","author":"Bour","year":"2007","journal-title":"Mov. Disord."},{"key":"ref_48","first-page":"tre-02-82-472-2","article-title":"Familial cortical myoclonic tremor with epilepsy and cerebellar changes: Description of a new pathology case and review of the literature","volume":"2","author":"Sharifi","year":"2012","journal-title":"Tremor Other Hyperkinet. Mov."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.yebeh.2015.12.038","article-title":"Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy","volume":"56","author":"Coppola","year":"2016","journal-title":"Epilepsy Behav."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.5692\/clinicalneurol.54.1142","article-title":"Recent advance in research of benign adult familial myoclonus epilepsy (BAFME): Is BAFME a progressive disorder?","volume":"54","author":"Hitomi","year":"2014","journal-title":"Rinsho Shinkeigaku"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1684\/epd.2016.0807","article-title":"Benign adult familial myoclonus epilepsy is a progressive disorder: No longer idiopathic generalized epilepsy","volume":"18","author":"Hitomi","year":"2016","journal-title":"Epileptic Disord."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1136\/jnnp.47.1.33","article-title":"On the significance of giant somatosensory evoked potentials in cortical myoclonus","volume":"47","author":"Rothwell","year":"1984","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_53","first-page":"385","article-title":"Electrophysiology of somatosensory reflex myoclonus","volume":"43","author":"Rothwell","year":"1986","journal-title":"Adv. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/0013-4694(75)90046-2","article-title":"Electroencephalographic correlates of myoclonus","volume":"39","author":"Shibasaki","year":"1975","journal-title":"Electroencephalogr. Clin. Neurophysiol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/brain\/101.3.447","article-title":"Electroencephalographic studies myoclonus","volume":"101","author":"Shibasaki","year":"1978","journal-title":"Brain"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.neucli.2006.10.001","article-title":"Neurophysiology of myoclonus","volume":"36","author":"Cassim","year":"2006","journal-title":"Neurophysiol. Clin."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.clinph.2013.08.002","article-title":"Electroencephalographic features of benign adult familial myoclonic epilepsy","volume":"125","author":"Toyota","year":"2014","journal-title":"Clin. Neurophysiol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ebcr.2018.09.010","article-title":"Sleep is associated with reduction of epileptiform discharges in benign adult familial myoclonus epilepsy","volume":"11","author":"Hitomi","year":"2018","journal-title":"Epilepsy Behav. Case Rep."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1212\/WNL.0000000000006620","article-title":"Cortical myoclonic tremor induced by fixation-off sensitivity: An unusual cause of insomnia","volume":"91","author":"Licchetta","year":"2018","journal-title":"Neurology"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/brain\/122.3.461","article-title":"Coherent cortical and muscle discharge in cortical myoclonus","volume":"122","author":"Brown","year":"1999","journal-title":"Brain"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1093\/brain\/awg043","article-title":"Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus","volume":"126","author":"Grosse","year":"2003","journal-title":"Brain"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/mds.20703","article-title":"Coherence analysis differentiates between cortical myoclonic tremor and essential tremor","volume":"21","author":"Maurits","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1093\/brain\/108.1.225","article-title":"Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy","volume":"108","author":"Shibasaki","year":"1985","journal-title":"Brain"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1002\/mds.20530","article-title":"Levetiracetam in patients with cortical myoclonus: A clinical and electrophysiological study","volume":"20","author":"Striano","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1016\/j.clinph.2019.07.006","article-title":"Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex","volume":"130","author":"Oi","year":"2019","journal-title":"Clin. Neurophysiol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"fcac037","DOI":"10.1093\/braincomms\/fcac037","article-title":"Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: Pathophysiology and diagnostic implications","volume":"4","author":"Dubbioso","year":"2022","journal-title":"Brain Commun."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1002\/mds.28666","article-title":"A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials","volume":"36","author":"Tojima","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1111\/j.1528-1167.2008.01900.x","article-title":"(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy","volume":"50","author":"Striano","year":"2009","journal-title":"Epilepsia"},{"key":"ref_69","first-page":"485","article-title":"A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy","volume":"11","author":"Long","year":"2015","journal-title":"Neuropsychiatr. Dis. Treat."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s12311-012-0414-2","article-title":"Decreased cerebellar fiber density in cortical myoclonic tremor but not in essential tremor","volume":"12","author":"Buijink","year":"2013","journal-title":"Cerebellum"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s12311-015-0734-0","article-title":"Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study","volume":"15","author":"Buijink","year":"2016","journal-title":"Cerebellum"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1111\/epi.17213","article-title":"White matter alterations in familial cortical myoclonic tremor with epilepsy type 1","volume":"63","author":"Wang","year":"2022","journal-title":"Epilepsia"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1111\/epi.13372","article-title":"Altered cerebellar-cerebral functional connectivity in benign adult familial myoclonic epilepsy","volume":"57","author":"Long","year":"2016","journal-title":"Epilepsia"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/mds.28014","article-title":"Altered Cerebello-Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1","volume":"35","author":"Wang","year":"2020","journal-title":"Mov. Disord."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10048-008-0118-4","article-title":"Benign adult familial myoclonic epilepsy (BAFME): Evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families","volume":"9","author":"Madia","year":"2008","journal-title":"Neurogenetics"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1038\/jhg.2011.93","article-title":"Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree","volume":"56","author":"Mori","year":"2011","journal-title":"J. Hum. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/ajmg.b.32337","article-title":"Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family","volume":"168","author":"Cen","year":"2015","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1007\/s00439-016-1700-8","article-title":"Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2","volume":"135","author":"Henden","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ana.24028","article-title":"The \u03b12B-adrenergic receptor is mutant in cortical myoclonus and epilepsy","volume":"75","author":"Vago","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1212\/WNL.0000000000004709","article-title":"\u03b4-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy","volume":"89","author":"Groffen","year":"2017","journal-title":"Neurology"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.seizure.2015.12.004","article-title":"Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances","volume":"34","author":"Cen","year":"2016","journal-title":"Seizure"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/s41588-018-0067-2","article-title":"Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy","volume":"50","author":"Ishiura","year":"2018","journal-title":"Nat. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"146796","DOI":"10.1016\/j.brainres.2020.146796","article-title":"Familial cortical myoclonic tremor with epilepsy: TTTCA\/TTTTA repeat expansions and expanding phenotype in two Chinese families","volume":"1737","author":"Zhang","year":"2020","journal-title":"Brain Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmedgenet-2018-105484","article-title":"Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy","volume":"56","author":"Zeng","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/s10038-020-00855-0","article-title":"DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A","volume":"66","author":"Terasaki","year":"2021","journal-title":"J. Hum. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"fcaa214","DOI":"10.1093\/braincomms\/fcaa214","article-title":"Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene","volume":"3","author":"Mahadevan","year":"2020","journal-title":"Brain Commun."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"4919","DOI":"10.1038\/s41467-019-12763-9","article-title":"Unstable TTTTA\/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3","volume":"10","author":"Florian","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"3360","DOI":"10.1093\/brain\/awz267","article-title":"TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4","volume":"142","author":"Yeetong","year":"2019","journal-title":"Brain"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ajhg.2017.06.007","article-title":"A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia","volume":"101","author":"Seixas","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/humu.23704","article-title":"Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution","volume":"40","author":"Loureiro","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1002\/mds.20558","article-title":"Possible anticipation in BAFME: Three generations examined in a Japanese family","volume":"20","author":"Ikeda","year":"2005","journal-title":"Mov. Disord."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1111\/ene.13848","article-title":"TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy","volume":"26","author":"Lei","year":"2019","journal-title":"Eur. J. Neurol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1093\/brain\/awy160","article-title":"Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1","volume":"141","author":"Cen","year":"2018","journal-title":"Brain"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1212\/01.wnl.0000260063.46425.7e","article-title":"FAME 3: A novel form of progressive myoclonus and epilepsy","volume":"68","author":"Carr","year":"2007","journal-title":"Neurology"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s12311-012-0419-x","article-title":"Autosomal dominant cortical tremor, myoclonus, and epilepsy: Is the origin in the cerebellum?","volume":"12","author":"Striano","year":"2013","journal-title":"Editorial. Cerebellum"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"e87","DOI":"10.1093\/brain\/awaa260","article-title":"Cortical tremor: A tantalizing conundrum between cortex and cerebellum","volume":"143","author":"Striano","year":"2020","journal-title":"Brain"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ana.21948","article-title":"RNA-mediated neurodegeneration in repeat expansion disorders","volume":"67","author":"Todd","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.gde.2017.01.005","article-title":"RNA toxicity and foci formation in microsatellite expansion diseases","volume":"44","author":"Zhang","year":"2017","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1080\/10409238.2020.1841726","article-title":"Repeat RNA expansion disorders of the nervous system: Post-transcriptional mechanisms and therapeutic strategies","volume":"56","author":"Schwartz","year":"2021","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"e101112","DOI":"10.15252\/embj.2018101112","article-title":"RNA toxicity in non-coding repeat expansion disorders","volume":"39","author":"Swinnen","year":"2020","journal-title":"EMBO J."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.seizure.2018.07.014","article-title":"Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy","volume":"61","author":"Kobayashi","year":"2018","journal-title":"Seizure"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/mds.870110615","article-title":"Clinical trial of piracetam in patients with myoclonus: Nationwide multiinstitution study in Japan. The Myoclonus\/Piracetam Study Group","volume":"11","author":"Ikeda","year":"1996","journal-title":"Mov. Disord."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1111\/j.1528-1167.2007.01198.x","article-title":"Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy","volume":"48","author":"Striano","year":"2007","journal-title":"Epilepsia"},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Ueno, T., Katagai, A., Okudera, R., Fujita, M., and Tomiyama, M. (Neurol. Sci., 2022). Carbamazepine-induced convulsive status epilepticus in benign adult familial myoclonic epilepsy: A case report, Neurol. Sci., ahead of print.","DOI":"10.1007\/s10072-022-06366-4"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.brainresbull.2018.05.016","article-title":"Transcranial magnetic stimulation in myoclonus of different aetiologies","volume":"140","author":"Nardone","year":"2018","journal-title":"Brain Res. Bull."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1016\/j.clinph.2007.04.014","article-title":"Low frequency repetitive transcranial magnetic stimulation over premotor cortex can improve cortical tremor","volume":"118","author":"Houdayer","year":"2007","journal-title":"Clin. Neurophysiol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1016\/j.cell.2017.07.010","article-title":"Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9","volume":"170","author":"Batra","year":"2017","journal-title":"Cell"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"e1594","DOI":"10.1002\/wrna.1594","article-title":"The powerful world of antisense oligonucleotides: From bench to bedside","volume":"11","author":"Quemener","year":"2020","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/nn.4508","article-title":"Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy","volume":"20","author":"Corey","year":"2017","journal-title":"Nat. Neurosci."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/12\/1617\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:54:07Z","timestamp":1760126047000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/12\/12\/1617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,13]]},"references-count":109,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2023,6]]}},"alternative-id":["cells12121617"],"URL":"https:\/\/doi.org\/10.3390\/cells12121617","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,13]]}}}