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.