Neuronal Nicotinic Acetylcholine Receptors and Epilepsy.
The identification of a genetically transmissible form of epilepsy that is associated with a mutation in CHRNA4, the gene that encodes the alpha4 subunit of the high-affinity nicotinic acetylcholine receptor, was the first demonstration that an alteration in a ligand-gated ion channel can cause seizures. Since then, nine mutations have been found, and analysis of their physiologic properties has revealed that all of them enhance receptor function.
Department of Physiology, Medical Faculty, Geneva, Switzerland.
Daniel
D
Bertrand