{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:57:04Z","timestamp":1791899824793,"version":"4.3.4"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,3,1]]},"DOI":"10.1093\/brain\/awm002","type":"journal-article","created":{"date-parts":[[2007,3,8]],"date-time":"2007-03-08T08:17:40Z","timestamp":1173341860000},"page":"843-852","source":"Crossref","is-referenced-by-count":432,"title":["The spectrum of SCN1A-related infantile epileptic encephalopathies"],"prefix":"10.1093","volume":"130","author":[{"given":"Louise A.","family":"Harkin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta M.","family":"McMahon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xenia","family":"Iona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne","family":"Dibbens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James T.","family":"Pelekanos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer M.","family":"Zuberi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynette G.","family":"Sadleir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thorsten","family":"Stanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Harbord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sat Dev","family":"Batish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey G.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William K.","family":"Seltzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Infantile Epileptic Encephalopathy Referral Consortium,","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Mulley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,3]]},"reference":[{"key":"key\n\t\t\t\t20180126084643_B1","first-page":"125","article-title":"The Lennox-Gastaut syndrome","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"Beaumanoir","year":"2005"},{"key":"key\n\t\t\t\t20180126084643_B2","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/S1474-4422(06)70446-X","article-title":"De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study","volume":"5","author":"Berkovic","year":"2006","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20180126084643_B3","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/ana.410040611","article-title":"Clinical and electroencephalographic correlates of the multiple independent spike foci pattern in children","volume":"4","author":"Blume","year":"1978","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180126084643_B4","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1212\/WNL.41.8.1223","article-title":"Multifocal independent epileptiform discharges in children: ictal correlates and surgical therapy","volume":"41","author":"Burnstine","year":"1991","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B5","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1086\/320609","article-title":"De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy","volume":"68","author":"Claes","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180126084643_B6","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1111\/j.1528-1157.1989.tb05316.x","article-title":"Proposal for revised classification of epilepsies and epileptic syndromes","volume":"30","author":"Commission on Classification and Terminology of the International League against Epilepsy","year":"1989","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B7","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/humu.9419","article-title":"Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy","volume":"27","author":"Depienne","year":"2006","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180126084643_B8","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1055\/s-0028-1091841","article-title":"Centrencephalic myoclonic-astatic petit mal","volume":"2","author":"Doose","year":"1970","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180126084643_B9","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1055\/s-2007-973567","article-title":"Severe idiopathic generalised epilepsy of infancy with generalised tonic-clonic seizures","volume":"29","author":"Doose","year":"1998","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180126084643_B10","first-page":"543","article-title":"Les epilepsies graves de l\u2019enfant","volume":"8","author":"Dravet","year":"1978","journal-title":"La Vie M\u00e9dicale"},{"key":"key\n\t\t\t\t20180126084643_B11","first-page":"89","article-title":"Severe myoclonic epilepsy in infancy (Dravet syndrome)","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"Dravet","year":"2005"},{"key":"key\n\t\t\t\t20180126084643_B12","first-page":"135","article-title":"Myoclonic epilepsies in childhood","volume-title":"Advances in epileptology. XIIIth Epilepsy International Symposium","author":"Dravet","year":"1982"},{"key":"key\n\t\t\t\t20180126084643_B13","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1055\/s-2005-865607","article-title":"SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures","volume":"36","author":"Ebach","year":"2005","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20180126084643_B14","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","article-title":"A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology","volume":"42","author":"Engel","year":"2001","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B15","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1086\/319524","article-title":"A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy","volume":"68","author":"Escayg","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180126084643_B16","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding \u03b1 neuronal sodium channel, in two families with GEFS+2","volume":"24","author":"Escayg","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180126084643_B17","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/brain\/awg053","article-title":"Mutations of sodium channel \u03b1 subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures","volume":"126","author":"Fujiwara","year":"2003","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180126084643_B18","first-page":"297","article-title":"Long-term course of childhood epilepsy with intractable grand mal seizures","volume":"46","author":"Fujiwara","year":"1992","journal-title":"Jpn J Psychiatr Neurol"},{"key":"key\n\t\t\t\t20180126084643_B19","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.0013-9580.2004.15103.x","article-title":"Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)","volume":"45","author":"Fukuma","year":"2004","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B20","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.bbrc.2005.12.209","article-title":"Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy","volume":"341","author":"Gennaro","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t20180126084643_B21","first-page":"115","article-title":"Myoclonic astatic epilepsy","volume-title":"Epilepsy syndromes in infancy, childhood and adolescence","author":"Guerrini","year":"2005"},{"key":"key\n\t\t\t\t20180126084643_B22","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1212\/01.wnl.0000249312.73155.7d","article-title":"Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults","volume":"67","author":"Jansen","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B23","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1212\/01.WNL.0000129829.31179.5B","article-title":"Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity","volume":"63","author":"Kanai","year":"2004","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B24","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0896-6974(05)80132-X","article-title":"Medically intractable generalized tonic-clonic or clonic seizures in infancy","volume":"5","author":"Kanazawa","year":"1992","journal-title":"J Epilepsy"},{"key":"key\n\t\t\t\t20180126084643_B25","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/S0387-7604(01)00279-0","article-title":"Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy","volume":"23","author":"Kanazawa","year":"2001","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180126084643_B26","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.pediatrneurol.2005.07.009","article-title":"Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy","volume":"34","author":"Kearney","year":"2006","journal-title":"Pediatr Neurol"},{"key":"key\n\t\t\t\t20180126084643_B27","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.braindev.2004.11.005","article-title":"A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures","volume":"27","author":"Kimura","year":"2005","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180126084643_B28","first-page":"189","article-title":"Multifocal independent spike syndrome (MISS): an identifiable and predictable electroclinical syndrome [abstract]","volume":"39","author":"Malik","year":"1989","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B29","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1111\/j.1528-1167.2006.00641.x","article-title":"Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations","volume":"47","author":"Mancardi","year":"2006","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B30","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1212\/WNL.27.8.746","article-title":"Slow spike-wave activity in EEG and associated clinical features: often called \u2018Lennox\u2019 or \u2018Lennox-Gastaut\u2019 syndrome","volume":"27","author":"Markand","year":"1977","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B31","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.1111\/j.1528-1167.2006.00675.x","article-title":"Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy","volume":"47","author":"Marini","year":"2006","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B32","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1111\/j.1528-1167.2006.00645.x","article-title":"SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy","volume":"47","author":"Morimoto","year":"2006","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B33","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1212\/01.wnl.0000237322.04338.2b","article-title":"A new molecular mechanism for severe myoclonic infancy of epilepsy: exonic deletions of SCN1A","volume":"67","author":"Mulley","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B34","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/humu.20178","article-title":"SCN1A mutations and epilepsy","volume":"25","author":"Mulley","year":"2005","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180126084643_B35","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1097\/00004691-200311000-00002","article-title":"Epileptic encephalopathies: a brief overview","volume":"20","author":"Nabbout","year":"2003","journal-title":"J Clin Neurophysiol"},{"key":"key\n\t\t\t\t20180126084643_B36","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1212\/01.WNL.0000069463.41870.2F","article-title":"Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy","volume":"60","author":"Nabbout","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B37","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.eplepsyres.2003.08.007","article-title":"Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy","volume":"56","author":"Nabbout","year":"2003","journal-title":"Epilepsy Res"},{"key":"key\n\t\t\t\t20180126084643_B38","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1212\/WNL.26.7.667","article-title":"Clinical and electroencephalographic correlation of independent multifocal spike discharges","volume":"26","author":"Noriega-Sanchez","year":"1976","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B39","first-page":"554","article-title":"An investigation on the borderland of severe myoclonic epilepsy in infancy","volume":"42","author":"Ogino","year":"1988","journal-title":"Jpn J Psychiatr Neurol"},{"key":"key\n\t\t\t\t20180126084643_B40","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/S0387-7604(03)00038-X","article-title":"Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?","volume":"25","author":"Ohmori","year":"2003","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180126084643_B41","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0006-291X(02)00617-4","article-title":"Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy","volume":"295","author":"Ohmori","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t20180126084643_B42","doi-asserted-by":"crossref","first-page":"S179","DOI":"10.1111\/j.1440-1819.1995.tb02168.x","article-title":"Lennox-Gastaut syndrome: a new vista","volume":"49","author":"Ohtahara","year":"1995","journal-title":"Psychiatr Clin Neurosci"},{"key":"key\n\t\t\t\t20180126084643_B43","first-page":"257","article-title":"Long-term prognosis of the Lennox-Gastaut syndrome","volume":"44","author":"Ohtsuka","year":"1990","journal-title":"Jpn J Psychiatr Neurol"},{"key":"key\n\t\t\t\t20180126084643_B44","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1528-1157.2000.tb02212.x","article-title":"Refractory childhood epilepsy and factors related to refractoriness","volume":"41","author":"Ohtsuka","year":"2000","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B45","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/brain\/awg047","article-title":"Severe infantile epilepsies: molecular genetics challenge clinical classification","volume":"126","author":"Scheffer","year":"2003","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180126084643_B46","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1093\/brain\/120.3.479","article-title":"Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes","volume":"120","author":"Scheffer","year":"1997","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180126084643_B47","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1046\/j.1528-1157.2001.042007837.x","article-title":"Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?","volume":"42","author":"Singh","year":"2001","journal-title":"Epilepsia"},{"key":"key\n\t\t\t\t20180126084643_B48","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/1531-8249(199901)45:1<75::AID-ART13>3.0.CO;2-W","article-title":"Generalized epilepsy with febrile seizures plus: a common, childhood onset, genetic epilepsy syndrome","volume":"45","author":"Singh","year":"1999","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180126084643_B49","first-page":"463","article-title":"Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy (Dravet)","volume":"41","author":"Sugama","year":"1987","journal-title":"Jpn J Psychiatr Neurol"},{"key":"key\n\t\t\t\t20180126084643_B50","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1212\/WNL.58.7.1122","article-title":"Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy","volume":"58","author":"Sugawara","year":"2002","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B51","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1002\/humu.20350","article-title":"Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients","volume":"27","author":"Suls","year":"2006","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180126084643_B52","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1212\/01.WNL.0000086379.71183.78","article-title":"Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms","volume":"61","author":"Wallace","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180126084643_B53","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1086\/319516","article-title":"Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus","volume":"68","author":"Wallace","year":"2001","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180126084643_B54","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.1130","article-title":"Denaturing high-performance liquid chromatography: a review","volume":"17","author":"Xiao","year":"2001","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180126084643_B55","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1097\/00004691-200311000-00006","article-title":"Severe epilepsy with multiple independent spike foci","volume":"20","author":"Yamatogi","year":"2003","journal-title":"J Clin Neurophysiol"},{"key":"key\n\t\t\t\t20180126084643_B56","doi-asserted-by":"crossref","first-page":"S96","DOI":"10.1016\/j.eplepsyres.2006.01.013","article-title":"Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of \u201csevere epilepsy with multiple independent spike foci\u201d","volume":"70","author":"Yamatogi","year":"2006","journal-title":"Epilepsy Res"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/130\/3\/843\/23665428\/awm002.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,26]],"date-time":"2018-01-26T08:46:52Z","timestamp":1516956412000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/130\/3\/843\/281979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,1]]},"references-count":56,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2007,3]]},"published-print":{"date-parts":[[2007,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awm002","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2007,3]]},"published":{"date-parts":[[2007,3,1]]}}}