Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants
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DOI：
10.1212/01.wnl.0000127310.11526.fd
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发表时间：
2004-05-25
期刊：
影响因子：
9.9
通讯作者：
Dichgans, M
中科院分区：
文献类型：
--
作者：
Jurkat-Rott, K;Freilinger, T;Dichgans, M
A1A2 Na+/K+- atp酶突变导致家族性偏瘫偏头痛2型（FHM2）。作者确定了三个假定的A1A2突变（D718N, R763H, P979L）和三个等待验证的突变（P796R, E902K, X1021R）。10%至20%的FHM病例可能是FHM2。A1A2突变的外显率约为87%。D718N可引起频繁、持久的HM，而P979L可引起复发性昏迷。D718N和P979L可能易患癫痫和智力迟钝。A1A2在散发性HM中不起主要作用；24例中只有1例出现R383H变异。
A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.