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

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.

• Authors: H A Phillips, I Favre, M Kirkpatrick, S M Zuberi, D Goudie, S E Heron, I E Scheffer, G R Sutherland, S F Berkovic, D Bertrand, J C Mulley
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 68 Issue 1 Pg. 225-31 (Jan 2001) ISSN: 0002-9297 [Print] United States
• PMID: 11104662 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Protein Subunits
• Receptors, Nicotinic
• nicotinic receptor beta2
• Acetylcholine

Topics

• Acetylcholine (pharmacology)
• Amino Acid Sequence
• Amino Acid Substitution (genetics)
• Animals
• Base Sequence
• Child
• Conserved Sequence
• Electric Conductivity
• Epilepsy, Frontal Lobe (genetics, metabolism, physiopathology)
• Female
• Genes, Dominant (genetics)
• Humans
• Male
• Molecular Sequence Data
• Mutation (genetics)
• Oocytes (drug effects, metabolism)
• Pedigree
• Protein Subunits
• Receptors, Nicotinic (genetics, metabolism)
• Scotland
• Seizures (genetics, physiopathology)
• Sleep Wake Disorders (genetics, physiopathology)
• Xenopus laevis