KEGG   VARIANT: 1137v1
Entry
1137v1                      Variant                                
Name
CHRNA4 mutation
Type
Loss of function
Gene
CHRNA4  cholinergic receptor nicotinic alpha 4 subunit [KO:K04806]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118504
Network
nt06544  Neuroactive ligand signaling
Disease
H00807  Nocturnal frontal lobe epilepsy
Reference
PMID:9175743
  Authors
Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D
  Title
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.
  Journal
Hum Mol Genet 6:943-7 (1997)
DOI:10.1093/hmg/6.6.943
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