title: Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.
authors.affiliation: Department of Neurology, Ludwig-Maximilians-Universität München, Klinikum Grosshadern, Munich, Germany. tobias.freilinger@med.uni-muenchen.de
authors.forename: T
authors.initials: T
authors.lastname: Freilinger
authors.forename: M
authors.initials: M
authors.lastname: Bohe
authors.forename: B
authors.initials: B
authors.lastname: Wegener
authors.forename: B
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: M
authors.initials: M
authors.lastname: Dichgans
authors.forename: H
authors.initials: H
authors.lastname: Knoblauch
mesh_terms: 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
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type