Article
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
Molecular pharmacology - 1 Aug 2008
Hoda Jean-Charles, Gu Wenli, Friedli Marc, Phillips Hilary A, Bertrand Sonia, Antonarakis Stylianos E, Goudie David, Roberts Richard, Scheffer Ingrid E, Marini Carla, Patel Jayesh, Berkovic Samuel F, Mulley John C, Steinlein Ortrud K, Bertrand Daniel
Abstract excerpt
Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). All but one of the known causative mutations are located in the second transmembrane region (TM2), which serves as the major ion poreforming domain of the receptor. Functional characterization of these...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- Animals
- Anticonvulsants
- Cell Line
- Epilepsy, Frontal Lobe
- Female
- Humans
- Ion Channels