Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms

被引：42

作者：

Auvin, Stephane ^{[1
,2
]}

Holder-Espinasse, Muriel ^{[3
]}

Lamblin, Marie-Dominique ^{[4
]}

Andrieux, Joris ^{[5
]}

机构：

[1] CHU Robert Debre, APHP, Serv Neurol Pediat & Malad Metab, Paris, France

[2] CHRU Lille, Serv Neurol Pediat, Lille, France

[3] CHRU Lille, Serv Genet Clin, Lille, France

[4] CHRU Lille, Serv Neurophysiol Clin, Lille, France

[5] CHRU, Hop Jeanne Flandre, Med Genet Lab, Lille, France

来源：

EPILEPSIA | 2009年 / 50卷 / 11期

关键词：

FAMILIAL HEMIPLEGIC MIGRAINE; CALCIUM-CHANNEL; MUTATION; ATAXIA;

D O I：

10.1111/j.1528-1167.2009.02189.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：2501 / 2503

页数：3

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