Ion Channelopathies

Common Name(s)

Ion Channelopathies

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ion Channelopathies" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ion Channelopathies" returned 5 free, full-text research articles on human participants. First 3 results:

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
 

Author(s): Paola Imbrici, Concetta Altamura, Giulia Maria Camerino, Giuseppe Felice Mangiatordi, Elena Conte, Lorenzo Maggi, Raffaella Brugnoni, Kejla Musaraj, Roberta Caloiero, Domenico Alberga, Renè Massimiliano Marsano, Giulia Ricci, Gabriele Siciliano, Orazio Nicolotti, Marina Mora, Pia Bernasconi, Jean-Francois Desaphy, Renato Mantegazza, Diana Conte Camerino

Journal: FASEB J.. 2016 10;30(10):3285-3295.

 

Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, ...

Last Updated: 31 Dec 1969

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Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations.
 

Author(s): Jessica R Gilbert, Mkael Symmonds, Michael G Hanna, Raymond J Dolan, Karl J Friston, Rosalyn J Moran

Journal: Neuroimage. 2016 Jan;124(Pt A):43-53.

 

Clinical assessments of brain function rely upon visual inspection of electroencephalographic waveform abnormalities in tandem with functional magnetic resonance imaging. However, no current technology proffers in vivo assessments of activity at synapses, receptors and ion-channels, ...

Last Updated: 31 Dec 1969

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Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation.
 

Author(s): Carlo Napolitano, Raffaella Bloise, Nicola Monteforte, Silvia G Priori

Journal: Circulation. 2012 Apr;125(16):2027-34.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ion Channelopathies" returned 7 free, full-text review articles on human participants. First 3 results:

Ion channelopathies in functional GI disorders.
 

Author(s): Arthur Beyder, Gianrico Farrugia

Journal: Am. J. Physiol. Gastrointest. Liver Physiol.. 2016 Oct;311(4):G581-G586.

 

In the gastrointestinal (GI) tract, abnormalities in secretion, absorption, motility, and sensation have been implicated in functional gastrointestinal disorders (FGIDs). Ion channels play important roles in all these GI functions. Disruptions of ion channels' ability to conduct ions ...

Last Updated: 31 Dec 1969

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[Omega pore, an alternative ion channel permeation pathway involved in the development of several channelopathies].
 

Author(s): Adrien Moreau, Mohamed Chahine

Journal: Med Sci (Paris). ;31(8-9):735-41.

 

Voltage gated ion channels (VGIC) constitute a large family of ion channels. VGIC are responsible for ions to cross the membrane. They are composed of a pore domain associated to voltage sensor domains (VSD), which regulate the function of the pore. The VSD has been recognized as ...

Last Updated: 31 Dec 1969

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Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.
 

Author(s): Crystal F Kline, Peter J Mohler

Journal: Biochim. Biophys. Acta. 2014 Feb;1838(2):723-30.

 

The past twenty years have revealed the existence of numerous ion channel mutations resulting in human pathology. Ion channels provide the basis of diverse cellular functions, ranging from hormone secretion, excitation-contraction coupling, cell signaling, immune response, and trans-epithelial ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.