[Channelopathy].
Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies, paroxysmal movement disorders, myopathies and some degenerative disorders of central nervous system. Ion channel defects were mainly caused by genetic and autoimmune mechanisms. Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.
Okamoto
K
K
Department of Neurology, Gunma University School of Medicine.
Ikeda
Y
Y
D001323:Autoantibodies; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000276:immunology*; D015624:Lambert-Eaton Myasthenic Syndrome / Q000209:etiology; D009154:Mutation; D009468:Neuromuscular Diseases / Q000209:etiology*; D020513:Paralysis, Hyperkalemic Periodic / Q000209:etiology; D020754:Spinocerebellar Ataxias / Q000209:etiology
D001323:Autoantibodies; D007473:Ion Channels