Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/24064
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Type: Journal article
Title: A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
Author: Mulley, J.
Nelson, P.
Guerrero, S.
Dibbens, L.
Iona, X.
McMahon, J.
Harkin, L.
Schouten, J.
Yu, S.
Berkovic, S.
Scheffer, I.
Citation: Neurology, 2006; 67(6):1094-1095
Publisher: Lippincott Williams & Wilkins
Issue Date: 2006
ISSN: 0028-3878
1526-632X
Statement of
Responsibility: 
Mulley, 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
Abstract: We 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.
Keywords: Humans; Epilepsies, Myoclonic; Sodium Channels; Nerve Tissue Proteins; Cohort Studies; DNA Mutational Analysis; Gene Deletion; Exons
Description: Copyright © 2006 American Academy of Neurology
RMID: 0020061227
DOI: 10.1212/01.wnl.0000237322.04338.2b
Description (link): http://www.neurology.org/cgi/content/abstract/67/6/1094
Appears in Collections:Molecular and Biomedical Science publications

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