PubMed 11719257

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1

Title: Familial hemiplegic migraine: a ion channel disorder.

Authors: P Carrera, S Stenirri, M Ferrari, S Battistini

Journal, date & volume: Brain Res. Bull., 2001 Oct-Nov 1 , 56, 239-41

PubMed link:

At present, little information is available on the genetics of common migraines, most likely to be considered a multifactorial disease. Recently, the CACNA1A gene encoding the brain-specific P/Q type calcium channel alpha(1) subunit, has been cloned and mutations in this gene, located on chromosome 19p13, have been shown to be involved in familial hemiplegic migraine (FHM), a rare autosomal dominantly inherited subtype of migraine with aura. Being part of the migraine spectrum, FHM represents a good model to study the genetics of more common forms of migraine. Different classes of mutations within the CACNA1A gene have been associated with different diseases, thus identifying a new member among 'channelopathies'. Variable clinical expression and genetic heterogeneity of FHM will be discussed.