Inborn errors of neurotransmitter receptors.
Inborn errors of neurotransmitter receptors are recently described gene mutations that directly affect receptor function. Currently three conditions are known to be caused by this mechanism: hyperekplexia; two forms of congenital inherited myasthenic syndromes; and autosomal dominant nocturnal frontal lobe epilepsy. Here, neurotransmitters, their receptors and known inborn errors of receptor function are reviewed.
Institute of Child Health (UCLMS), London, UK.
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D006801:Humans; D009422:Nervous System Diseases / Q000209:etiology*; D018377:Neurotransmitter Agents / Q000378:metabolism / Q000502:physiology*; D017981:Receptors, Neurotransmitter / Q000378:metabolism / Q000502:physiology*
D018377:Neurotransmitter Agents; D017981:Receptors, Neurotransmitter