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Article

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

Neurology - 25 May 2004

Jurkat-Rott K, Freilinger T, Dreier J P, Herzog J, Göbel H, Petzold G C, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M

Abstract excerpt

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...

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Identifiers

PMID: 15159495
DOI: 10.1212/01.wnl.0000127310.11526.fd

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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