KEGG   VARIANT: 3736v1
Entry
3736v1                      Variant                                
Name
KCNA1 mutation
Type
Loss of function
Gene
KCNA1  potassium voltage-gated channel subfamily A member 1 [KO:K04874]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176260
Network
nt06546  IgSF CAM signaling
Disease
H00749  Episodic ataxias
Reference
PMID:7842011
  Authors
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M
  Title
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
  Journal
Nat Genet 8:136-40 (1994)
DOI:10.1038/ng1094-136
Reference
  Authors
Herson PS, Virk M, Rustay NR, Bond CT, Crabbe JC, Adelman JP, Maylie J
  Title
A mouse model of episodic ataxia type-1.
  Journal
Nat Neurosci 6:378-83 (2003)
DOI:10.1038/nn1025
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