Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Inherited ion channel disorders.

R Surtees1

  • 1Institute of Child Health UCLMS, London, UK. r.surtees@ich.ucl.ac.uk

European Journal of Pediatrics
|February 24, 2001
PubMed
Summary
This summary is machine-generated.

Inherited ion channel disorders, or channelopathies, result from gene mutations affecting ion channels. This review covers channelopathies impacting skeletal muscle and the central nervous system, detailing their clinical features and causes.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Vertical saccade palsy: a presenting sign of Niemann-Pick type IIS.

European journal of neurology·2013
Same author

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

American journal of medical genetics. Part A·2007
Same author

A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.

Journal of inherited metabolic disease·2007
Same author

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Neurology·2006
Same author

Influenza virus associated encephalopathy.

Archives of disease in childhood·2006
Same author

Disorders of intermediary metabolism: toxic leukoencephalopathies.

Journal of inherited metabolic disease·2005

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Inherited ion channel disorders, termed channelopathies, arise from mutations in genes encoding ion channels.
  • These disorders predominantly affect skeletal muscle and the central nervous system.
  • They encompass a range of conditions including various myotonias, periodic paralyses, epilepsy syndromes, and ataxia.

Purpose of the Study:

  • To review the clinical features, etiology, and pathogenesis of inherited voltage-gated ion channel disorders.
  • To consolidate information on channelopathies affecting muscle and the central nervous system.

Main Methods:

  • Literature review of inherited ion channel disorders.
  • Synthesis of clinical, genetic, and pathogenetic data.

Related Experiment Videos

Main Results:

  • Skeletal muscle channelopathies include sodium, calcium, and chloride channelopathies, leading to conditions like periodic paralysis, myotonia, malignant hyperthermia, and central core disease.
  • Central nervous system channelopathies involve neuronal sodium, potassium, and calcium channels, causing epilepsy, episodic ataxia, familial hemiplegic migraine, and spinocerebellar ataxia.
  • Specific gene mutations correlate with distinct clinical phenotypes.

Conclusions:

  • Voltage-gated ion channel mutations are a significant cause of inherited neurological and neuromuscular disorders.
  • Understanding the molecular basis of these channelopathies is crucial for diagnosis and potential therapeutic strategies.