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Results 1 - 10 of 34 for Channelopathy
  1. Channelopathy-associated congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. ... have shorter life expectancies.The first signs of channelopathy-associated congenital insensitivity to pain often occur when ...
  2. ... The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8( ... Tristani-Firouzi M, Etheridge SP. Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch. 2010 Jul; ...
  3. ... MG. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: ...
  4. Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical ...
  5. Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle ...
  6. The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. The glycine receptor is embedded in the ...
  7. Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, ...
  8. Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, ...
  9. ... the SCN9A gene have been found to cause channelopathy-associated congenital insensitivity to pain, a condition that ... Wood JN, Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 2006 ...
  10. ... Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep. 2012 Feb;12(1): ... Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss ...
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