Three novel KCNA1 mutations in episodic ataxia type I families.
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.
Scheffer
H
H
Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl
Brunt
E R
ER
Mol
G J
GJ
van der Vlies
P
P
Stulp
R P
RP
Verlind
E
E
Mantel
G
G
Averyanov
Y N
YN
Hofstra
R M
RM
Buys
C H
CH
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
C496946:KCNA1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D051662:Kv1.1 Potassium Channel