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Inborn errors of neurotransmitter receptors
Author(s) -
Surtees R.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005591820414
Subject(s) - neurotransmitter receptor , neurotransmitter , receptor , epilepsy , neurotransmitter systems , biology , neuroscience , medicine , endocrinology , genetics
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.