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Human Disorders Caused by the Disruption of the Regulation of Excitatory Neurotransmission

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Inhibitory Regulation of Excitatory Neurotransmission

Part of the book series: Results and Problems in Cell Differentiation ((RESULTS,volume 44))

Abstract

The nicotinic acetylcholine receptors (nAChRs) are members of the large family of ligand-gated ion channels, and are constituted by the assembly of five subunits arranged pseudosymmetrically around the central axis that forms a cation-selective ion pore. They are widely distributed in both the nervous system and non-neuronal tissues, and can be activated by endogenous agonists such as acetylcholine or exogenous ligands such as nicotine. Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR).

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  1. Institute of Human Genetics, Ludwig-Maximilians-University, School of Medicine, Goethestr. 29, 80336, München, Germany

    Ortrud K. Steinlein

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Mark G. Darlison

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Steinlein, O.K. (2007). Human Disorders Caused by the Disruption of the Regulation of Excitatory Neurotransmission. In: Darlison, M.G. (eds) Inhibitory Regulation of Excitatory Neurotransmission. Results and Problems in Cell Differentiation, vol 44. Springer, Berlin, Heidelberg. https://doi.org/10.1007/400_2007_034

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