CHRNB2 Gene

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1		Vicky Zhou	+ 453 word(s)	453	2020-12-15 07:47:39

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Zhou, V. CHRNB2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5134 (accessed on 22 September 2026).

Zhou V. CHRNB2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5134. Accessed September 22, 2026.

Zhou, Vicky. "CHRNB2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5134 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CHRNB2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5134

Zhou, Vicky. "CHRNB2 Gene." Encyclopedia. Web. 24 December, 2020.

CHRNB2 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/chrnb2

cholinergic receptor nicotinic beta 2 subunit

genes

References

Arneric SP, Holladay M, Williams M. Neuronal nicotinic receptors: aperspective on two decades of drug discovery research. Biochem Pharmacol. 2007Oct 15;74(8):1092-101.
Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, SteinleinOK. The CHRNB2 mutation I312M is associated with epilepsy and distinct memorydeficits. Neurobiol Dis. 2005 Dec;20(3):799-804.
Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, BertrandS, Berkovic SF, Malafosse A, Mulley J. How mutations in the nAChRs can causeADNFLE epilepsy. Epilepsia. 2002;43 Suppl 5:112-22.
Bertrand S, Weiland S, Berkovic SF, Steinlein OK, Bertrand D. Properties ofneuronal nicotinic acetylcholine receptor mutants from humans suffering fromautosomal dominant nocturnal frontal lobe epilepsy. Br J Pharmacol. 1998Oct;125(4):751-60.
De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A,Ballabio A, Wanke E, Casari G. The nicotinic receptor beta 2 subunit is mutant innocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov;26(3):275-6.
di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F. Recent advanceson autosomal dominant nocturnal frontal lobe epilepsy: "understanding thenicotinic acetylcholine receptor (nAChR)". Eur J Paediatr Neurol.2005;9(2):59-66. Review.
Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D,Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D. Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles ofpathogenic nicotinic acetylcholine receptor beta-subunit mutations outside theion channel pore. Mol Pharmacol. 2008 Aug;74(2):379-91. doi:10.1124/mol.107.044545.
Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors insleep-related epilepsy. Biochem Pharmacol. 2007 Oct 15;74(8):1308-14.
Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, SchefferIE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. CHRNB2 is the secondacetylcholine receptor subunit associated with autosomal dominant nocturnalfrontal lobe epilepsy. Am J Hum Genet. 2001 Jan;68(1):225-31.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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