A novel ATP1A2 mutation in a family with FHM type II

被引：34

作者：

Pierelli, F

Grieco, GS

Pauri, F

Pirro, C

Fiermonte, G

Ambrosini, A

Costa, A

Buzzi, MG

Valoppi, M

Caltagirone, C

Nappi, G

Santorelli, FM ^{[1
]}

机构：

[1] IRCCS, Rome, Italy

[2] Univ Roma La Sapienza, Dept Neurol & ORL, UCADH, Rome, Italy

[3] IRCCS NEUROMED, Headache Clin, Pozzilli, IS, Italy

[4] IRCCS C Mondino, Ctr Expt Neurobiol, Rome, Italy

[5] Univ Pavia, UCADH, IRCCS C Mondino, Dept Neurol, Pavia, Italy

[6] IRCCS, Fdn S Lucia, Rome, Italy

来源：

CEPHALALGIA | 2006年 / 26卷 / 03期

关键词：

ATP1A2; gene; hemiplegic migraine; mutation;

D O I：

10.1111/j.1468-2982.2006.01002.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.

引用

页码：324 / 328

页数：5

共 25 条

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