KEGG   VARIANT: 1141v1
Entry
1141v1                      Variant                                
Name
CHRNB2 gain-of-function mutation
Type
Gain of function
Gene
CHRNB2  cholinergic receptor nicotinic beta 2 subunit [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:19383498
  Authors
Hoda JC, Wanischeck M, Bertrand D, Steinlein OK
  Title
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.
  Journal
FEBS Lett 583:1599-604 (2009)
DOI:10.1016/j.febslet.2009.04.024
Reference
PMID:20561518
  Authors
Di Resta C, Ambrosi P, Curia G, Becchetti A
  Title
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy.
  Journal
Eur J Pharmacol 643:13-20 (2010)
DOI:10.1016/j.ejphar.2010.05.063
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