ABSTRACT
Nicotinic acetylcholine receptors (nAChR) mediate the fast actions of acetylcholine in the nervous system and at neuromuscular junctions. They are pentameric, transmembrane proteins containing an integral cation-selective channel. nAChR play important roles in genetic and autoimmune disorders and they are targets for important drugs and chemicals. Autosomal dominant nocturnal frontal lobe epilepsy is a rare, inherited syndrome that usually occurs during childhood and is characterized by brief, frequent clusters of seizures occurring during light sleep. This is the only idiopathic epilepsy for which a genetic basis has been established, with three loci being identified so far. Mutations in muscle nAChR subunits underlie congenital myasthenia syndromes (CMS) inherited disorders characterized by muscle weakness. Examples of CMS include slow channel syndromes and fast channel syndromes in which the nicotinic receptor ion channel remains open for longer or shorter than normal. Proteins that interact with nAChRs play roles in CMS.
