title: Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
abstract: Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.
authors.affiliation: Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, United Kingdom.
authors.forename: P
authors.initials: P
authors.lastname: Imbrici
authors.forename: L H
authors.initials: LH
authors.lastname: Eunson
authors.forename: T D
authors.initials: TD
authors.lastname: Graves
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: N H
authors.initials: NH
authors.lastname: Wadia
authors.forename: D M
authors.initials: DM
authors.lastname: Kullmann
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000818:Animals; D001483:Base Sequence / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D020013:Calcium Signaling / Q000235:genetics; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009865:Oocytes; D017354:Point Mutation / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009435:Synaptic Transmission / Q000235:genetics; D014982:Xenopus laevis; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type