Familial basilar migraine associated with a new mutation in the ATP1A2 gene
Familial basilar migraine associated with a new mutation in the ATP1A2 gene
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DOI：
10.1212/01.wnl.0000187072.71931.c0
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发表时间：
2005-12-13
期刊：
影响因子：
9.9
通讯作者：
Pierelli, F
中科院分区：
文献类型：
--
作者：
Ambrosini, A;D'Onofrio, M;Pierelli, F
基底型偏头痛 (BM)、家族性偏瘫性偏头痛 (FHM) 和散发性偏瘫性偏头痛 (SHM) 是表型相似的先兆偏头痛亚型，仅通过运动症状来区分，而 BM 中不存在运动症状。 FHM 中发现了 CACNA1A 和 ATP1A2 突变。作者在 BM 家族成员中检测到 ATP1A2 基因 (R548H) 的新突变，表明 BM 和 FHM 可能是等位基因疾病。
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.