{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T07:54:38Z","timestamp":1778745278525,"version":"3.51.4"},"reference-count":50,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T00:00:00Z","timestamp":1343174400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0041802","type":"journal-article","created":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T21:18:25Z","timestamp":1343251105000},"page":"e41802","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":51,"title":["Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome"],"prefix":"10.1371","volume":"7","author":[{"given":"Anna Ka-Yee","family":"Kwong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheuk-Wing","family":"Fung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siu-Yuen","family":"Chan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia Chun-Nei","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2012,7,25]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/humu.20279","article-title":"Genes and loci involved in febrile seizures and related epilepsy syndromes.","volume":"27","author":"D Audenaert","year":"2006","journal-title":"Hum Mutat"},{"key":"ref2","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":"R Singh","year":"2001","journal-title":"Epilepsia"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.02994.x","article-title":"The core Dravet syndrome phenotype.","volume":"52","author":"C Dravet","year":"2011","journal-title":"Epilepsia"},{"key":"ref4","first-page":"89","article-title":"Severe myoclonic epilepsy in infancy (Dravet syndrome).","author":"C Dravet","year":"2005"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1093\/brain\/awm002","article-title":"The spectrum of SCN1A-related infantile epileptic encephalopathies.","volume":"130","author":"LA Harkin","year":"2007","journal-title":"Brain"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1126\/science.287.5451.295","article-title":"Distal initiation and active propagation of action potentials in interneuron dendrites.","volume":"287","author":"M Martina","year":"2000","journal-title":"Science"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/74159","article-title":"Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.","volume":"24","author":"A Escayg","year":"2000","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"E904","DOI":"10.1002\/humu.21083","article-title":"The SCN1A variant database: a novel research and diagnostic tool.","volume":"30","author":"LR Claes","year":"2009","journal-title":"Hum Mutat"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"S218","DOI":"10.1016\/j.eplepsyres.2005.11.025","article-title":"Na channel gene mutations in epilepsy\u2013the functional consequences.","volume":"70","author":"K Yamakawa","year":"2006","journal-title":"Epilepsy Res"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2008.062323","article-title":"Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.","volume":"46","author":"C Depienne","year":"2009","journal-title":"J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1136\/jmg.2009.074328","article-title":"Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.","volume":"47","author":"C Depienne","year":"2010","journal-title":"J Med Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1212\/WNL.0b013e31820c309b","article-title":"Genotype-phenotype associations in SCN1A-related epilepsies.","volume":"76","author":"SM Zuberi","year":"2011","journal-title":"Neurology"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.pediatrneurol.2011.11.003","article-title":"Genes of early-onset epileptic encephalopathies: from genotype to phenotype.","volume":"46","author":"M Mastrangelo","year":"2012","journal-title":"Pediatric neurology"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng.149","article-title":"X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.","volume":"40","author":"LM Dibbens","year":"2008","journal-title":"Nat Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2009.068817","article-title":"Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.","volume":"47","author":"K Hynes","year":"2010","journal-title":"J Med Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.1002\/ajmg.a.33611","article-title":"Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.","volume":"152A","author":"SM Jamal","year":"2010","journal-title":"Am J Med Genet A"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/S0092-8674(00)80789-8","article-title":"A striking organization of a large family of human neural cadherin-like cell adhesion genes.","volume":"97","author":"Q Wu","year":"1999","journal-title":"Cell"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1101\/gad.14.10.1169","article-title":"Cadherin superfamily genes: functions, genomic organization, and neurologic diversity.","volume":"14","author":"T Yagi","year":"2000","journal-title":"Genes Dev"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1007\/s00018-005-5021-7","article-title":"delta-Protocadherins: a gene family expressed differentially in the mouse brain.","volume":"62","author":"K Vanhalst","year":"2005","journal-title":"Cellular and molecular life sciences : CMLS"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/j.neuroscience.2007.03.052","article-title":"Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain.","volume":"147","author":"SY Kim","year":"2007","journal-title":"Neuroscience"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1093\/brain\/awm338","article-title":"Epilepsy and mental retardation limited to females: an under-recognized disorder.","volume":"131","author":"IE Scheffer","year":"2008","journal-title":"Brain"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"e1000381","DOI":"10.1371\/journal.pgen.1000381","article-title":"Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.","volume":"5","author":"C Depienne","year":"2009","journal-title":"PLoS Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1212\/WNL.0b013e3181bd10d3","article-title":"Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.","volume":"73","author":"A Poduri","year":"2009","journal-title":"Neurology"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"e23149","DOI":"10.1371\/journal.pone.0023149","article-title":"Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases.","volume":"6","author":"RM Piro","year":"2011","journal-title":"PLoS One"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gtmb.2010.0036","article-title":"Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.","volume":"14","author":"SE Flanagan","year":"2010","journal-title":"Genetic testing and molecular biomarkers"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1136\/jmg.2005.033878","article-title":"Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.","volume":"43","author":"SV Tavtigian","year":"2006","journal-title":"J Med Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution.","volume":"185","author":"R Grantham","year":"1974","journal-title":"Science"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/humu.20151","article-title":"Automated splicing mutation analysis by information theory.","volume":"25","author":"VK Nalla","year":"2005","journal-title":"Hum Mutat"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1111\/j.1528-1167.2007.01122.x","article-title":"Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.","volume":"48","author":"C Marini","year":"2007","journal-title":"Epilepsia"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.seizure.2010.06.010","article-title":"Milder phenotype with SCN1A truncation mutation other than SMEI.","volume":"19","author":"MJ Yu","year":"2010","journal-title":"Seizure"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1442-200X.2009.02916.x","article-title":"Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.","volume":"52","author":"ES Herini","year":"2010","journal-title":"Pediatr Int"},{"key":"ref32","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":"MM Mancardi","year":"2006","journal-title":"Epilepsia"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"2010","DOI":"10.1172\/JCI25466","article-title":"Sodium channel mutations in epilepsy and other neurological disorders.","volume":"115","author":"MH Meisler","year":"2005","journal-title":"J Clin Invest"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1684\/j.1950-6945.2003.tb00522.x","article-title":"Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.","volume":"5","author":"E Gennaro","year":"2003","journal-title":"Epileptic Disord"},{"key":"ref35","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":"C Depienne","year":"2006","journal-title":"Hum Mutat"},{"key":"ref36","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":"E Gennaro","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"ref37","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":"M Morimoto","year":"2006","journal-title":"Epilepsia"},{"key":"ref38","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":"K Kanai","year":"2004","journal-title":"Neurology"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1002\/ajmg.a.33029","article-title":"Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.","volume":"149A","author":"D Riva","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1528-1167.2010.02925.x","article-title":"Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.","volume":"52","author":"F Ragona","year":"2011","journal-title":"Epilepsia"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1469-8749.2011.03966.x","article-title":"Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.","volume":"53","author":"R Guerrini","year":"2011","journal-title":"Dev Med Child Neurol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/sj.mp.4001241","article-title":"Sodium channels SCN1A, SCN2A and SCN3A in familial autism.","volume":"8","author":"LA Weiss","year":"2003","journal-title":"Mol Psychiatry"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ng.835","article-title":"Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.","volume":"43","author":"BJ O\u2019Roak","year":"2011","journal-title":"Nat Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.eplepsyres.2007.03.018","article-title":"Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.","volume":"75","author":"H Osaka","year":"2007","journal-title":"Epilepsy Res"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.yebeh.2011.04.060","article-title":"Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation.","volume":"21","author":"BM Li","year":"2011","journal-title":"Epilepsy Behav"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1528-1167.2010.02885.x","article-title":"A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome.","volume":"52","author":"B Tro-Baumann","year":"2011","journal-title":"Epilepsia"},{"key":"ref47","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":"SF Berkovic","year":"2006","journal-title":"Lancet Neurol"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"E1959","DOI":"10.1002\/humu.21373","article-title":"Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.","volume":"32","author":"C Depienne","year":"2011","journal-title":"Hum Mutat"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1212\/WNL.0b013e3181ed9e67","article-title":"Protocadherin 19 mutations in girls with infantile-onset epilepsy.","volume":"75","author":"C Marini","year":"2010","journal-title":"Neurology"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1212\/WNL.0b013e318217e7b6","article-title":"Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.","volume":"76","author":"LM Dibbens","year":"2011","journal-title":"Neurology"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0041802","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,27]],"date-time":"2024-04-27T13:04:18Z","timestamp":1714223058000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0041802"}},"subtitle":[],"editor":[{"given":"Markus","family":"Schuelke","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2012,7,25]]},"references-count":50,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2012,7,25]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0041802","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,25]]}}}