Familial hemiplegic migraine: A ion channel disorder

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...

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Veröffentlicht in:Brain research bulletin 2001-10, Vol.56 (3-4), p.239-241
Hauptverfasser: CARRERA, Paola, STENIRRI, Stefania, FERRARI, Maurizio, BATTISTINI, Stefania
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Sprache:eng
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Zusammenfassung: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.
ISSN:0361-9230
1873-2747
DOI:10.1016/S0361-9230(01)00570-6