CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*
Authors:
- Isabelle FavreIFIsabelle Favre
- Martin KirkpatrickMKMartin Kirkpatrick
- Sameer M. ZuberiSZSameer M. Zuberi
- David GoudieDGDavid Goudie
- Sarah E. HeronSHSarah E. Heron
- Ingrid E. SchefferISIngrid E. Scheffer
- Grant R. SutherlandGSGrant R. Sutherland
- Samuel F. BerkovicSamuel F. Berkovic
- Daniel BertrandDBDaniel Bertrand
- John C. MulleyJMJohn C. Mulley
- 1 January 2001
- journal article
- case report
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 68 (1) , 225-231
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- A de novo mutation in sporadic nocturnal frontal lobe epilepsyAnnals of Neurology, 2000
- The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes ( CHRNB2 and CHRNA3 )Human Genetics, 1998
- Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24The American Journal of Human Genetics, 1998
- Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsyBritish Journal of Pharmacology, 1998
- An Insertion Mutation of the CHRNA4 Gene in a Family With Autosomal Dominant Nocturnal Frontal Lobe EpilepsyHuman Molecular Genetics, 1997
- An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kineticsFEBS Letters, 1996
- A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyNature Genetics, 1995
- Cloning and transient expression of genes encoding the human α4 and β2 neuronal nicotinic acetylcholine receptor (nAChR) subunitsGene, 1995
- Autosomal dominant nocturnal frontal lobe epilepsyBrain, 1995
- Pentameric structure and subunit stoichiometry of a neuronal nicotinic acetylcholine receptorNature, 1991