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XB-ART-9877
Am J Hum Genet. January 1, 2001; 68 (1): 225-31.

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

Phillips HA , Favre I , Kirkpatrick M , Zuberi SM , Goudie D , Heron SE , Scheffer IE , Sutherland GR , Berkovic SF , Bertrand D , Mulley JC .


Abstract
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.

PubMed ID: 11104662
PMC ID: PMC1234917
Article link: Am J Hum Genet.

Genes referenced: chrnb2
Antibodies referenced:
Morpholinos referenced:

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