title: Ion channels-related diseases.
abstract: There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.
authors: Department of Biophysics, Agricultural University SGGW, Warszawa, Poland. dworakowska@delta.sggw.waw.pl
authors: B
authors: B
authors: Dworakowska
authors: K
authors: K
authors: Dołowy
mesh_terms: D000818:Animals; D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D004827:Epilepsy / Q000235:genetics / Q000378:metabolism; D006331:Heart Diseases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism*; D008305:Malignant Hyperthermia / Q000235:genetics / Q000378:metabolism; D008659:Metabolic Diseases / Q000235:genetics* / Q000378:metabolism*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism; D018009:Receptors, Glycine / Q000235:genetics / Q000378:metabolism; D011978:Receptors, Nicotinic / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism
chemical_list: C505032:CFTR protein, human; D015220:Calcium Channels; D018118:Chloride Channels; D007473:Ion Channels; D015221:Potassium Channels; D018009:Receptors, Glycine; D011978:Receptors, Nicotinic; D015222:Sodium Channels; D019005:Cystic Fibrosis Transmembrane Conductance Regulator