Article
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.
Archives of neurology - 1 May 2003
Kors E E, Haan J, Giffin N J, Pazdera L, Schnittger C, Lennox G G, Terwindt G M, Vermeulen F L M J, Van den Maagdenberg A M J M, Frants R R, Ferrari M D
Abstract excerpt
BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. Missense mutations in the chromosome 19 CACNA1A calcium channel gene have been found in approximately half of the families. The T666M mutation, replacing a threonine by a methionine at residue number 666, is the most frequent mutation, reported in 14 independent FHM families; other mutations have so far been...
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