Article
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group.
Neurology - 1 Apr 1998
Terwindt G M, Ophoff R A, Haan J, Vergouwe M N, van Eijk R, Frants R R, Ferrari M D
Abstract excerpt
Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with aura, with half of the families being assigned to chromosome 19p13. We identified missense mutations in a brain-specific calcium channel alpha1A-subunit (CACNA1A) gene on 19p13 segregating with FHM and truncating mutations in families with episodic ataxia type 2 (EA-2). Expansions of an intragenic CAG repeat have been shown in...
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