[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.
Kors
E E
EE
Afd. Neurologie, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
Haan
J
J
Frants
R R
RR
Ferrari
M D
MD
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