A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.
Freilinger
T
T
Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-Universität, Munich, Germany. tobias.freilinger@med.uni-muenchen.de
Ackl
N
N
Ebert
A
A
Schmidt
C
C
Rautenstrauss
B
B
Dichgans
M
M
Danek
A
A
D015220:Calcium Channels / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics; D003072:Cognition Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000150:complications / Q000235:genetics; D008954:Models, Biological; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type