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Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.

Biochimica et biophysica acta - 1 Aug 2012

Garza-López Edgar, Sandoval Alejandro, González-Ramírez Ricardo, Gandini María A, Van den Maagdenberg Arn, De Waard Michel, Felix Ricardo

Abstract excerpt

Familial hemiplegic migraine type 1 (FHM-1) is a monogenic form of migraine with aura that is characterized by recurrent attacks of a typical migraine headache with transient hemiparesis during the aura phase. In a subset of patients, additional symptoms such as epilepsy and cerebellar ataxia are part of the clinical phenotype. FHM-1 is caused by missense mutations in the CACNA1A gene that encodes the...

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PMID: 22549042
DOI: 10.1016/j.bbadis.2012.04.008

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