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

[Channelopathies in neurology].

J Grippo1, T Grippo

  • 1División de Neurología; Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina. grippo@fibertel.com.ar

Revista De Neurologia
|January 11, 2002
PubMed
Summary

Dysfunctional ion channels cause a range of channelopathies, affecting muscle and nerve tissues. These channelopathies manifest as episodic or permanent conditions with diverse clinical and genetic features.

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

Aromatic retinoid Acid-derivatives are potent inducers of differentiation of neuroblastoma-cells - structure-function relationship and the involvement of the nuclear retinoic Acid receptors.

International journal of oncology·2011
Same author

A comprehensive hepatitis C viral kinetic model explaining cure.

Clinical pharmacology and therapeutics·2010
Same author

The effects of glaucoma on the latency of the multifocal visual evoked potential.

The British journal of ophthalmology·2006
Same author

[Subacute sclerosing panencephalitis: fulminant form].

Revista de neurologia·2003
Same author

[Spinal cord injury without evidence of lesion in an hemophilic child].

Revista de neurologia·2002
Same author

[Behçet's disease in children: cortical calcifications].

Revista de neurologia·2002

Area of Science:

  • Ion channel function in biological systems.
  • Molecular and cellular basis of ion channel activity.

Context:

  • Ion channels are crucial for cellular excitation and signal transmission.
  • Channelopathies are a group of diseases arising from ion channel dysfunction.
  • These disorders affect various tissues, including muscle and neuronal systems.

Purpose:

  • To review the diverse clinical and molecular manifestations of channelopathies.
  • To highlight the link between ion channel dysfunction and episodic or permanent neurological and muscular conditions.

Summary:

  • Ion channel alterations lead to a spectrum of channelopathies.
  • Calcium (Ca) channel defects are linked to periodic paralysis and myasthenic disorders.
  • Chloride (Cl) and sodium (Na) channel issues cause myotonic diseases and paralysis.
  • Channelopathies also encompass episodic ataxias, migraines, and paroxysmal movement disorders.
  • Dysfunctional ion channels are implicated in various epileptic syndromes.

Impact:

  • Understanding channelopathies aids in diagnosing and managing diverse neuromuscular and neurological disorders.
  • Highlights the genetic and clinical heterogeneity of diseases linked to ion channel dysfunction.
  • Provides insights into the molecular mechanisms underlying episodic neurological phenomena.

Related Experiment Videos