CACNA1A gene mutations in familial hemiplegic migraine
© Springer-Verlag Italia 2000
Familial hemiplegic migraine (FHM) is an autosomal dominant subtpye of migraine with aura. A few years ago, the gene linked to FHM was identified. CACNA1A encodes a voltage-activated, pore-forming α1A subunit of the P/Q-type calcium channel. At present, an increasing number of mutations have been identified in this gene in patients with FHM. Genotype-phenotype comparisons have become feasible only recently. The in vitro functional consequences on channel function of the first mutations have been deciphered. This is the moment to evaluate these recent discoveries and see how they can help us understant the pathophysiology of FHM and the common forms of migraine.