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Neurology. 2004 May 25;62(10):1857-61.

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.

Author information

  • 1Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de

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.

PMID:
15159495
[PubMed - indexed for MEDLINE]
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