title: Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
abstract: Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and paroxysmal shortness of breath. Coding and flanking intronic regions of KCNA1 were sequenced. We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1.
authors.affiliation: Neurologic Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Ave., Cleveland, OH 44195, USA.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Shook
authors.forename: Hafsa
authors.initials: H
authors.lastname: Mamsa
authors.forename: Joanna C
authors.initials: JC
authors.lastname: Jen
authors.forename: Robert W
authors.initials: RW
authors.lastname: Baloh
authors.forename: Lan
authors.initials: L
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics*; D004418:Dyspnea, Paroxysmal / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D051662:Kv1.1 Potassium Channel / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: C496946:KCNA1 protein, human; D051662:Kv1.1 Potassium Channel