Inborn errors of neurotransmitter receptors

Inborn errors of neurotransmitter receptors are recently described gene mut ations that directly affect receptor function. Currently three conditions a re known to be caused by this mechanism: hyperekplexia; two forms of congen ital inherited myasthenic syndromes; and autosomal dominant nocturnal front al lobe epilepsy. Here, neurotransmitters, their receptors and known inborn errors of receptor function are reviewed.