A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
Alonso
I
I
Barros
J
J
Tuna
A
A
Seixas
A
A
Coutinho
P
P
Sequeiros
J
J
Silveira
I
I
D000293:Adolescent; D000328:Adult; D001120:Arginine; D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006429:Hemiplegia; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D020864:Calcium Channels, N-Type
D001120:Arginine; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type