Article
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
Clinical genetics - 1 Nov 2008
Stam A H, Vanmolkot K R J, Kremer H P H, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors E E, Frankhuizen W S, Ginjaar H B, Haan J, Frants R R, Ferrari M D, van den Maagdenberg A M J M, Terwindt G M
Abstract excerpt
Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. Including the four novel families presented here, of which two represent de novo cases, the R1347Q mutation has now been identified in six families. A genotype-phenotype comparison of R1347Q mutation...
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