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Channelopathies

Known as: Channelopathies [Disease/Finding], Channelopathy 
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and… 
National Institutes of Health

Related topics

Related topics

8 relations
In BloodMicrobiologicalNeuromuscular Junction Diseaseschemically induced

Narrower (1)

Indifference to Pain, Congenital, Autosomal Recessive

Papers overview

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2013
2013
Genetic analysis of sudden unexplained death: a multidisciplinary approach.
Highly Cited
2012
Highly Cited
2012
Stem cells and spinal cord repair.
For the past couple of decades, clinicians have watched the stem-cell field with a mixture of anticipation and skepticism. No… 
2009
2009
The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies
Review
2009
Review
2009
Sudden infant death syndrome: do ion channels play a role?
Review
2006
Review
2006
Genetic neurological channelopathies
Ion channels are crucial for the normal function of excitable tissues such as neurons and skeletal muscle. Since the discovery… 
Review
2005
Review
2005
Human skeletal muscle sodium channelopathies
Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and potassium channel activation… 
Highly Cited
2005
Highly Cited
2005
Molecular Properties of Voltage-Gated Calcium Channels
Native Voltage-Gated Ca Channels Early electrophysiological recordings from neurons, muscle and endocrine cells revealed voltage… 
Review
2005
Review
2005
Genetics of Idiopathic Epilepsies
Summary:  Purpose: To search for clues to molecular genetics of common idiopathic epilepsy syndromes. Genetic defects have been… 
Review
2003
Review
2003
Paroxysmal kinesigenic dyskinesias.
1998
1998
The biophysical and pharmacological characteristics of skeletal muscle ATP-sensitive K+ channels are modified in K+-depleted rat, an animal model of hypokalemic periodic paralysis.
We evaluated the involvement of the sarcolemmal ATP-sensitive K+ channel in the depolarization of skeletal muscle fibers… 
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