KEGG   VARIANT: 1141v2
Entry
1141v2                      Variant                                
Name
CHRNB2 mutation
Type
Loss of function
Gene
CHRNB2  neuronal acetylcholine receptor subunit beta-2 precursor [KO:K04813]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118507
Network
nt06544  Neuroactive ligand signaling
Disease
H00807  Nocturnal frontal lobe epilepsy
Reference
PMID:25770198
  Authors
Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R
  Title
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.
  Journal
Neurology 84:1520-8 (2015)
DOI:10.1212/WNL.0000000000001471
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