[From gene to disease; from CACNA1A to migraine].
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. FHM is associated in half the families with mutations in the CACNA1A gene on chromosome 19P13, encoding the alpha-1A subunit of brain-specific P/Q-type calcium channels. P/Q-type calcium channels are important in neurotransmitter release. The first functional studies indicate that mutations causing FHM result in a gain or loss of function of P/Q-type calcium channels. Affected sib-pair analysis in families with migraine with and without aura indicates involvement of the CACNA1A gene in these more frequent types of migraine.
Afd. Neurologie, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
E E
EE
Kors
J
J
Haan
R R
RR
Frants
M D
MD
Ferrari
D015220:Calcium Channels / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008881:Migraine Disorders / Q000235:genetics; D020325:Migraine with Aura / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type