title: Three novel KCNA1 mutations in episodic ataxia type I families.
abstract: Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: E R
authors.initials: ER
authors.lastname: Brunt
authors.forename: G J
authors.initials: GJ
authors.lastname: Mol
authors.forename: P
authors.initials: P
authors.lastname: van der Vlies
authors.forename: R P
authors.initials: RP
authors.lastname: Stulp
authors.forename: E
authors.initials: E
authors.lastname: Verlind
authors.forename: G
authors.initials: G
authors.lastname: Mantel
authors.forename: Y N
authors.initials: YN
authors.lastname: Averyanov
authors.forename: R M
authors.initials: RM
authors.lastname: Hofstra
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001259:Ataxia / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D051662:Kv1.1 Potassium Channel; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
chemical_list: C496946:KCNA1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D051662:Kv1.1 Potassium Channel