Human disorders caused by the disruption of the regulation of excitatory neurotransmission.
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).
Steinlein
Ortrud K
OK
Institute of Human Genetics, Ludwig-Maximilians-University, School of Medicine, Goethestr. 29, 80336 München, Germany. Ortrud.Steinlein@med.uni-muenchen.de
D000595:Amino Acid Sequence; D017204:Angelman Syndrome / Q000235:genetics / Q000378:metabolism; D017034:Epilepsy, Frontal Lobe / Q000235:genetics / Q000378:metabolism; D019706:Excitatory Postsynaptic Potentials / Q000502:physiology*; D006801:Humans; D008881:Migraine Disorders / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics / Q000378:metabolism; D009538:Nicotine / Q000378:metabolism*; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics / Q000502:physiology; D011978:Receptors, Nicotinic / Q000235:genetics / Q000502:physiology*; D015518:Rett Syndrome / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000378:metabolism; D009435:Synaptic Transmission / Q000502:physiology*
D024642:Potassium Channels, Voltage-Gated; D011978:Receptors, Nicotinic; D015222:Sodium Channels; D009538:Nicotine