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  • Title: [From gene to disease; from CACNA1A to migraine].
    Author: Kors EE, Haan J, Frants RR, Ferrari MD.
    Journal: Ned Tijdschr Geneeskd; 2001 Feb 10; 145(6):266-7. PubMed ID: 11236374.
    Abstract:
    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.
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