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Article

Functional characterization of a novel C-terminal <i>ATP1A2</i> mutation causing hemiplegic migraine and epilepsy

9 Jul 2013

Abstract excerpt

BACKGROUND: We describe a four-generation Italian family with familial hemiplegic migraine (FHM) and epilepsy due to a novel ATP1A2 missense mutation (R1007W). CASE RESULTS: Mutational analysis revealed a heterozygous nucleotide substitution c.3019C>T resulting in the missense substitution p.Arg1007Trp (p.R1007W) in seven subjects: Three individuals had hemiplegic migraine, two exhibited a clinical overlap...

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PMID: 23838748
DOI: 10.1177/0333102413495116

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