Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
Knight
M A
MA
Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.
Storey
E
E
McKinlay Gardner
R J
RJ
Hand
P
P
Forrest
S M
SM
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
C496946:KCNA1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D007532:Isoleucine; D051662:Kv1.1 Potassium Channel; D007930:Leucine