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A new molecular mechanism for severe myoclonic epilepsy of infancy:: Exonic deletions in SCN1A

被引：83
作者：
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.
机构：
[1] Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, Australia
[2] Univ Adelaide, Sch Mol & Biomed Sci, Adelaide, SA, Australia
[3] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia
[4] MRC, Amsterdam, Netherlands
[5] Univ Melbourne, Epilepsy Res Ctr, Heidelberg, Vic, Australia
[6] Univ Melbourne, Dept Med, Heidelberg, Vic, Australia
[7] Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia
来源：
NEUROLOGY | 2006年 / 67卷 / 06期
关键词：
D O I：
10.1212/01.wnl.0000237322.04338.2b
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：1094 / 1095
页数：2
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