title: Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
authors.affiliation: Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.
authors.forename: M A
authors.initials: MA
authors.lastname: Knight
authors.forename: E
authors.initials: E
authors.lastname: Storey
authors.forename: R J
authors.initials: RJ
authors.lastname: McKinlay Gardner
authors.forename: P
authors.initials: P
authors.lastname: Hand
authors.forename: S M
authors.initials: SM
authors.lastname: Forrest
mesh_terms: D001259:Ataxia / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D051662:Kv1.1 Potassium Channel; D007930:Leucine / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; 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; D007532:Isoleucine; D051662:Kv1.1 Potassium Channel; D007930:Leucine