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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/24064
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dc.contributor.authorMulley, J.-
dc.contributor.authorNelson, P.-
dc.contributor.authorGuerrero, S.-
dc.contributor.authorDibbens, L.-
dc.contributor.authorIona, X.-
dc.contributor.authorMcMahon, J.-
dc.contributor.authorHarkin, L.-
dc.contributor.authorSchouten, J.-
dc.contributor.authorYu, S.-
dc.contributor.authorBerkovic, S.-
dc.contributor.authorScheffer, I.-
dc.date.issued2006-
dc.identifier.citationNeurology, 2006; 67(6):1094-1095-
dc.identifier.issn0028-3878-
dc.identifier.issn1526-632X-
dc.identifier.urihttp://hdl.handle.net/2440/24064-
dc.descriptionCopyright © 2006 American Academy of Neurology-
dc.description.abstractWe examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.-
dc.description.statementofresponsibilityMulley, J C ; Nelson, P ; Guerrero, S ; Dibbens, L ; Iona, X ; Mcmahon, J M ; Harkin, L ; Schouten, J ; Yu, S ; Berkovic, S F ; Scheffer, I E-
dc.description.urihttp://www.neurology.org/cgi/content/abstract/67/6/1094-
dc.language.isoen-
dc.publisherLippincott Williams & Wilkins-
dc.source.urihttp://dx.doi.org/10.1212/01.wnl.0000237322.04338.2b-
dc.subjectHumans-
dc.subjectEpilepsies, Myoclonic-
dc.subjectSodium Channels-
dc.subjectNerve Tissue Proteins-
dc.subjectCohort Studies-
dc.subjectDNA Mutational Analysis-
dc.subjectGene Deletion-
dc.subjectExons-
dc.subjectNAV1.1 Voltage-Gated Sodium Channel-
dc.titleA new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A-
dc.typeJournal article-
dc.identifier.doi10.1212/01.wnl.0000237322.04338.2b-
pubs.publication-statusPublished-
Appears in Collections:Aurora harvest 6
Molecular and Biomedical Science publications

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