HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Inherited ion channel disorders.

AbstractUNLABELLED:
The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potassium-aggravated myotonia. Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyperthermia and central core disease. Skeletal muscle chloride channelopathies can cause Thomsen and Becker myotonia. A neuronal sodium channelopathy causes the generalised epilepsy febrile seizures plus syndrome. Neuronal potassium channelopathies can cause familial benign neonatal convulsions and episodic ataxia type 1. Finally, neuronal calcium channelopathies can cause episodic ataxia type 2, familial hemiplegic migraine and spinocerebellar ataxia type 6.
CONCLUSION:
The clinical features, aetiology and pathogenesis of inherited voltage-gated ion channel disorders affecting muscle and the central nervous system are reviewed here.
AuthorsR Surtees
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 159 Suppl 3 Pg. S199-203 (Dec 2000) ISSN: 0340-6199 [Print] Germany
PMID11216900 (Publication Type: Journal Article, Review)
Chemical References
  • Ion Channels
Topics
  • Ataxia (genetics)
  • Epilepsy (genetics)
  • Humans
  • Ion Channels (genetics, physiology)
  • Metabolism, Inborn Errors (genetics)
  • Paralysis, Hyperkalemic Periodic (genetics)
  • Seizures (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: