Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.
Freilinger
T
T
Department of Neurology, Ludwig-Maximilians-Universität München, Klinikum Grosshadern, Munich, Germany. tobias.freilinger@med.uni-muenchen.de
Bohe
M
M
Wegener
B
B
Müller-Myhsok
B
B
Dichgans
M
M
Knoblauch
H
H
D000328:Adult; D001284:Atrophy; D015220:Calcium Channels / Q000235:genetics*; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type