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
收藏
页码：2501 / 2503
页数：3
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