Regulating the regulators: the role of nicotinic acetylcholine receptors in human epilepsy.
Recent advances in genetic mapping have linked several epilepsies to mutations in genes coding for ion channel proteins. Mutations in genes coding for the alpha(4) and beta(2) subunits of the nicotinic acetylcholine receptor have been found in some families suffering from autosomal dominant nocturnal frontal lobe epilepsy. Expression of mutant alleles in the Xenopus oocyte expression system has allowed functional characterization of these mutant receptors at the cellular level. The challenge is now to design therapeutic strategies based on this knowledge of how receptor function is altered in certain epilepsies.
Hogg
R C
RC
Dept. of Physiology, CMU, 1 rue Michel Servet, CH-1211 Geneva 4, Switzerland. hogg1@etu.unige.ch
Bertrand
D
D
D000818:Animals; D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant; D005809:Genes, Regulator / Q000235:genetics* / Q000502:physiology; D006801:Humans; D009154:Mutation; D009865:Oocytes; D011978:Receptors, Nicotinic / Q000235:genetics* / Q000502:physiology*; D014981:Xenopus
D011978:Receptors, Nicotinic; C403531:nicotinic receptor alpha4beta2