Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
case_series · Level IV
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Abstract
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.
Medical subject headings
- Hemiplegia
- Migraine Disorders
- Mutation, Missense
- Point Mutation
- Sodium-Potassium-Exchanging ATPase