Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

被引：47

作者：

Chan, Yee-Cheun ^{[1
]}

Burgunder, Jean-Marc ^{[2
,3
]}

Wilder-Smith, Einar ^{[1
,2
]}

Chew, Soh-Eng ^{[2
]}

Lam-Mok-Sing, Karen M. J. ^{[4
]}

Sharma, Vijay ^{[1
]}

Ong, Benjamin K. C. ^{[1
,2
]}

机构：

[1] Natl Univ Singapore Hosp, Div Neurol, Singapore 119074, Singapore

[2] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Med, Singapore, Singapore

[3] Univ Bern, Dept Neurol, CH-3012 Bern, Switzerland

[4] Natl Univ Singapore, Dept Biol Sci, Singapore, Singapore

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 2008年 / 15卷 / 08期

关键词：

seizure; electroencephalography; familial hemiplegic migraine; germline mosaicism; CACNA1A gene; S218L; cortical spreading depression;

D O I：

10.1016/j.jocn.2007.01.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine. We present three siblings with the mutation with the novel association of childhood seizures, and highlight the dynamic changes seen on electroencephalography during hemiplegic migraine attacks. Depressed activity contralateral to the hemiparesis was seen on electroencephalography during acute hemiplegic migraine attacks, which may be due to changes to calcium channels caused by the S218L mutation. Both parents were asymptomatic and did not carry the S218L mutation in their blood. This suggests the presence of mosaicism in the transmitting parent. (c) 2007 Elsevier Ltd. All rights reserved.

引用

页码：891 / 894

页数：4

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