title: [Channelopathies in neurology].
abstract: BACKGROUND
  The main function of ionic channels are the conduction, recognition and selection of specific ions. They open and close in respond answer to electrical, mechanical and chemical stimulus, acting in the excitation or transmission of diverse tissues.
  
  
  METHODS
  The clinical and molecular manifestations of channelophathies are varied and use to shown up in continuous or paroxystic ways. Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like Lambert Eaton syndrome, amyotrophic lateral sclerosis, Central Core disease, malignant hyperthermia. Cl and Na channels alterations produce myotonic diseases: Thomsen, Becker and paramyothonies, potassium sensible paralysis, fluctuant congenital myotonic, Andersen s syndrome. Channelopathies also produce various episodic ataxia type 1, type 2, spinocerebellar 6 and familial hemiplegic migraine. Abnormal paroxystic movements are present as channelophaties: episodic nocturnal dystonia, paroxystic dyskinesia. In some families are associates abnormal episodic movements and epilepsy. Several epileptic syndromes are also related with channels dysfunction: frontal lobe nocturnal epilepsy, choreoatetosis epilepsy, benign neonatal convulsions, generalized epilepsy with febrile convulsions plus.
  
  
  CONCLUSIONS
  Voltage gated channels dysfunction are related to diseases with episodic phenomena or permanent conditions on muscle or neuronal tissues, with clinical and genetic heterogenous manifestations.
authors.affiliation: División de Neurología; Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina. grippo@fibertel.com.ar
authors.forename: J
authors.initials: J
authors.lastname: Grippo
authors.forename: T
authors.initials: T
authors.lastname: Grippo
mesh_terms: D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D008881:Migraine Disorders / Q000378:metabolism; D009069:Movement Disorders / Q000235:genetics / Q000378:metabolism*; D009132:Muscles / Q000378:metabolism; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism; D010507:Periodicity
chemical_list: D007473:Ion Channels
vernacular_title: Canalopatías en neurología.