Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/24064
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dc.contributor.authorMulley, J.en
dc.contributor.authorNelson, P.en
dc.contributor.authorGuerrero, S.en
dc.contributor.authorDibbens, L.en
dc.contributor.authorIona, X.en
dc.contributor.authorMcMahon, J.en
dc.contributor.authorHarkin, L.en
dc.contributor.authorSchouten, J.en
dc.contributor.authorYu, S.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorScheffer, I.en
dc.date.issued2006en
dc.identifier.citationNeurology, 2006; 67(6):1094-1095en
dc.identifier.issn0028-3878en
dc.identifier.issn1526-632Xen
dc.identifier.urihttp://hdl.handle.net/2440/24064-
dc.descriptionCopyright © 2006 American Academy of Neurologyen
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.en
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 Een
dc.description.urihttp://www.neurology.org/cgi/content/abstract/67/6/1094en
dc.language.isoenen
dc.publisherLippincott Williams & Wilkinsen
dc.subjectHumans; Epilepsies, Myoclonic; Sodium Channels; Nerve Tissue Proteins; Cohort Studies; DNA Mutational Analysis; Gene Deletion; Exonsen
dc.titleA new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1Aen
dc.typeJournal articleen
dc.identifier.rmid0020061227en
dc.identifier.doi10.1212/01.wnl.0000237322.04338.2ben
dc.identifier.pubid52428-
pubs.library.collectionMolecular and Biomedical Science publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Molecular and Biomedical Science publications

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