title: Molecular biology of channelopathies: impact on diagnosis and treatment.
abstract: Channelopathies are genetically determined ion channel alterations that lead to acute and transient symptoms in subjects who otherwise appear to be normal. This article reviews the recent progression of biomolecular studies that have clarified the mechanisms by which gene mutations may result in alterations of excitable tissues responsible for episodic neurological, neuromuscular and cardiac disorders, defined as channelopathies. The development of technologies capable of testing pharmacological agents in vitro on mutated channels expressed in cell lines makes it possible to define a more rational use of the available drugs acting on ion channels, and to design new molecules specifically targeted to known channel dysfunctions and new ones that could be identified by future genetic studies.
authors.affiliation: Istituto Nazionale Neurologico C. Besta, Via Celoria 11, 20133 Milan, Italy. avanzini@istituto-besta.it
authors.forename: Giuliano
authors.initials: G
authors.lastname: Avanzini
authors.forename: Silvana
authors.initials: S
authors.lastname: Franceschetti
authors.forename: Patrizia
authors.initials: P
authors.lastname: Avoni
authors.forename: Rocco
authors.initials: R
authors.lastname: Liguori
mesh_terms: D002493:Central Nervous System Diseases / Q000235:genetics / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics / Q000502:physiology; D007473:Ion Channels / Q000235:genetics / Q000502:physiology* / Q000503:physiopathology; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy*
chemical_list: D007473:Ion Channels