Voltage gated potassium channelopathy
: An expanding spectrum of clinical phenotypes BMJ Case Reports 2013; 2013: bcr2012007742.
This observation occurred despite the treatments targeting several different proposed disease mechanisms (e.g., hydrops, inflammatory, allergic, vascular, and channelopathy
testing in 274 ethnically diverse sudden unexplained deaths.
In addition, both the gain- and loss-of-function have been proposed as the underlying molecular mechanism in this channelopathy
resulting in increased excitability (4).
A novel mutation causing DEND syndrome: a treatable channelopathy
of pancreas and brain.
Interestingly, a British pediatric cohort observed that limb myotonia, strabismus, and respiratory symptoms are common among children with sodium channelopathy
. Moreover, scoliosis and/or contractures were demonstrated in 6 of 38 children., In line with these observations, our study highlights that conspicuous limb myotonia, scoliosis, peripheral contractures, and strabismus are nonnegligible features in children with skeletal muscle channelopathies [Supplementary Table 1] [SUPPORTING:1].
results in cardiac autonomic nervous system dysfunction at the onset of ventricular tachycardia (VT), syncope, and/or sudden cardiac arrest in the absence of a structural heart disease and is manifested as right bundle branch block and ST segment elevation in the right precordial leads.
When combining all four major cardiac channelopathy
genes (KCNQ1, KCNH2, SCN5A, and RYR2), ultra-rare, nonsynonymous variants were significantly overrepresented in European SIDS cases versus European control subjects (P = 0.013).
The underlying pathophysiology is a channelopathy
that involves ionic imbalances between inward and outward currents of the phase 1 of the action potential (5).
Abulhijaa et al., "Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
," Journal of Medical Genetics, vol.
York Platelet Syndrome (YPS) is a calcium channelopathy
caused by gain of function in STIM1, a gene which acts as a calcium sensor.