{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T12:10:15Z","timestamp":1762603815544},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1016\/j.cca.2013.02.015","type":"journal-article","created":{"date-parts":[[2013,2,26]],"date-time":"2013-02-26T00:47:37Z","timestamp":1361839657000},"page":"34-40","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["Molecular aspects of Dravet syndrome patients in Taiwan"],"prefix":"10.1016","volume":"421","author":[{"given":"Wei-De","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai-Ping","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shyi-Jou","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pi-Chuan","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Chin","family":"Weng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Chiang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushin","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hai","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Ching","family":"Chou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuu-Jen","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2013.02.015_bb0005","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":"10.1016\/j.cca.2013.02.015_bb0010","first-page":"71","article-title":"Severe myoclonic epilepsy in infancy: Dravet syndrome","volume":"95","author":"Dravet","year":"2005","journal-title":"Adv Neurol"},{"issue":"Suppl. 2","key":"10.1016\/j.cca.2013.02.015_bb0015","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1528-1167.2011.03007.x","article-title":"The pharmacologic treatment of Dravet syndrome","volume":"52","author":"Chiron","year":"2011","journal-title":"Epilepsia"},{"issue":"Suppl. 2","key":"10.1016\/j.cca.2013.02.015_bb0020","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":"Dravet","year":"2011","journal-title":"Epilepsia"},{"key":"10.1016\/j.cca.2013.02.015_bb0025","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":"Escayg","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0030","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/448","article-title":"Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B","volume":"19","author":"Wallace","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0035","doi-asserted-by":"crossref","first-page":"6384","DOI":"10.1073\/pnas.111065098","article-title":"A missense mutation of the Na+channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction","volume":"98","author":"Sugawara","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.cca.2013.02.015_bb0040","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/ng0501-49","article-title":"Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures","volume":"28","author":"Wallace","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0045","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1093\/hmg\/ddh146","article-title":"GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies","volume":"13","author":"Dibbens","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0050","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":"10.1016\/j.cca.2013.02.015_bb0055","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":"Depienne","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0060","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/jhg.2010.39","article-title":"Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome","volume":"55","author":"Sun","year":"2010","journal-title":"J Hum Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0065","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1086\/338710","article-title":"Truncation of the GABA(A)-receptor gamma-2 subunit in a family with generalized epilepsy with febrile seizures plus","volume":"70","author":"Harkin","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0070","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1056\/NEJMoa0910752","article-title":"Timing of de novo mutagenesis \u2014 a twin study of sodium-channel mutations","volume":"363","author":"Vadlamudi","year":"2010","journal-title":"N Engl J Med"},{"issue":"Suppl. 2","key":"10.1016\/j.cca.2013.02.015_bb0075","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1469-8749.2011.03965.x","article-title":"Molecular genetics of Dravet syndrome","volume":"53","author":"De Jonghe","year":"2011","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.cca.2013.02.015_bb0080","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/978-1-61779-507-7_2","article-title":"Microdeletion and microduplication syndromes","volume":"838","author":"Vissers","year":"2012","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.cca.2013.02.015_bb0085","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1212\/WNL.0b013e3181e0f147","article-title":"Tourette syndrome is associated with recurrent exonic copy number variants","volume":"74","author":"Sundaram","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.cca.2013.02.015_bb0090","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/nature09146","article-title":"Functional impact of global rare copy number variation in autism spectrum disorders","volume":"466","author":"Pinto","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.cca.2013.02.015_bb0095","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1002\/ana.22645","article-title":"Rare copy number variants are an important cause of epileptic encephalopathies","volume":"70","author":"Mefford","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1016\/j.cca.2013.02.015_bb0100","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. Commission on Classification and Terminology of the International League Against Epilepsy","volume":"30","year":"1989","journal-title":"Epilepsia"},{"key":"10.1016\/j.cca.2013.02.015_bb0105","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":"10.1016\/j.cca.2013.02.015_bb0110","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1212\/WNL.0b013e3181f8812e","article-title":"SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain","volume":"75","author":"Liao","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.cca.2013.02.015_bb0115","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1212\/01.wnl.0000230145.73496.a2","article-title":"A novel GABRG2 mutation associated with febrile seizures","volume":"67","author":"Audenaert","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.cca.2013.02.015_bb0120","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1101\/gr.077776.108","article-title":"Rapid whole-genome mutational profiling using next-generation sequencing technologies","volume":"18","author":"Smith","year":"2008","journal-title":"Genome Res"},{"key":"10.1016\/j.cca.2013.02.015_bb0125","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/s11060-009-9959-4","article-title":"A survey of glioblastoma genomic amplifications and deletions","volume":"96","author":"Rao","year":"2010","journal-title":"J Neurooncol"},{"issue":"4","key":"10.1016\/j.cca.2013.02.015_bb0130","doi-asserted-by":"crossref","first-page":"e10240","DOI":"10.1371\/journal.pone.0010240","article-title":"Malignant precursor cells pre-exist in human breast DCIS and require autophagy for survival","volume":"5","author":"Espina","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.cca.2013.02.015_bb0135","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0896-6273(00)81133-2","article-title":"From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels","volume":"26","author":"Catterall","year":"2000","journal-title":"Neuron"},{"key":"10.1016\/j.cca.2013.02.015_bb0140","series-title":"Mechanisms of Protein Folding","first-page":"212","article-title":"Proline isomerization and its catalysis in protein folding","author":"Balbach","year":"2000"},{"key":"10.1016\/j.cca.2013.02.015_bb0145","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":"10.1016\/j.cca.2013.02.015_bb0150","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1136\/jmg.2008.065912","article-title":"De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin","volume":"47","author":"Heron","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.cca.2013.02.015_bb0155","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1212\/01.WNL.0000086379.71183.78","article-title":"Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms","volume":"61","author":"Wallace","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.cca.2013.02.015_bb0160","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.seizure.2011.08.002","article-title":"SCN1A mutational analysis in Korean patients with Dravet syndrome","volume":"20","author":"Lim","year":"2011","journal-title":"Seizure"},{"key":"10.1016\/j.cca.2013.02.015_bb0165","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":"10.1016\/j.cca.2013.02.015_bb0170","doi-asserted-by":"crossref","first-page":"S223","DOI":"10.1016\/j.eplepsyres.2006.01.019","article-title":"Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies","volume":"70","author":"Fujiwara","year":"2006","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.cca.2013.02.015_bb0180","doi-asserted-by":"crossref","first-page":"e41802","DOI":"10.1371\/journal.pone.0041802","article-title":"Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome","volume":"7","author":"Kwong","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.cca.2013.02.015_bb0185","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1038\/nrm856","article-title":"Mechanisms and functions of Eph and ephrin signalling","volume":"3","author":"Kullander","year":"2002","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.cca.2013.02.015_bb0190","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/nrm1662","article-title":"Eph receptor signalling casts a wide net on cell behaviour","volume":"6","author":"Pasquale","year":"2005","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.cca.2013.02.015_bb0195","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/cne.22030","article-title":"Distribution of EphA5 receptor protein in the developing and adult mouse nervous system","volume":"514","author":"Cooper","year":"2009","journal-title":"J Comp Neurol"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898113000685?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898113000685?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T12:52:02Z","timestamp":1539867122000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898113000685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":38,"alternative-id":["S0009898113000685"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2013.02.015","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular aspects of Dravet syndrome patients in Taiwan","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2013.02.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}