BACKGROUND: Autoimmune voltage-gated potassium channelopathies have been associated with a range of neurological presenting symptoms, including central, peripheral, and autonomic dysfunction. [ncbi.nlm.nih.gov]

• Plethora

  Molecular biology provided the techniques to identify genes encoding ion channels, and, as a result, a plethora of channels has been discovered to be critical to the physiological function of virtually every tissue, controlling such diverse functions [doi.org]

• Cardiomegaly

  The presence of both cardiomegaly and CHF in the two affected males and atrial fibrillation in one are consistent with abnormal RyR2 channel function. [ncbi.nlm.nih.gov]

• Retinal Pigmentation

  We summarize functional relevance of Kir7.1 channel in retinal pigment epithelium (RPE), regulation of channel function by various cytoplasmic metabolites, and mutations that cause channelopathies. [ncbi.nlm.nih.gov]

Furthermore, the sodium current differences they found in one of the patient’s cell lines caused enough concern that they recommended the patient receive a full cardiac workup, revealing cardiac symptoms that would otherwise not have been found. [dravetfoundation.org]

Treatment of these disorders is highly variable, since their clinical pathogenesis and treatment are not well-defined. We need to learn more. We need your help. [rarediseasesnetwork.epi.usf.edu]

EPISODIC WEAKNESSCARDIAC ARRTHYMIASDYSMORPHIC FEARURESTREATMENT -ACETAZOLAMIDE 35. Figure 1. [slideshare.net]

Hyperphosphorylation, which is the main abnormality upstream to ion channels, can be targeted for suppressing the deterioration of ion channelopathy in terms of new drug discovery in the treatment and prevention of malignant cardiac arrhythmias. [ncbi.nlm.nih.gov]

It has, however, been difficult to conduct objective trials to identify treatments for rare epilepsy syndromes, most of which occur in infancy and childhood. [n.neurology.org]

SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis. [moh-it.pure.elsevier.com]

While genetic testing is valuable in both diagnosis and prognosis, it has limitations as well. Sometimes, a genetic change may be found that has not been shown to be disease-causing, but also has not been found to be harmless. [pediatricepsociety.org]

As indicated earlier, knowledge of a mutation does not affect prognosis, with the possible exception of specific findings in SCN5A. [content.onlinejacc.org]

TREATMENT ORAL KCL SUPPLEMENTATION KCL VIA INFUSION DONOT GIVE IN DEXTROSEPROPHYLAXIS ACETAZOLAMIDE (125-1000 Mg)PROGNOSIS USUALLY GOOD RARE DEVELOPMENT OF PROXIMAL MYOPATHY*Never forget to measure the thyroid hormones. 22. • The mechanism of effect of [slideshare.net]

Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. [ncbi.nlm.nih.gov]

It is yet to be determined whether the etiology of FHM3 and childhood seizures both result from sodium channelopathies affecting the brain. [jci.org]

"Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response". Medical Hypotheses. 62 (5): 759–765. doi:10.1016/j.mehy.2003.11.030. ISSN 0306-9877. PMID 15082102. ↑ Kim, June-Bum (January 2014). [me-pedia.org]

An increased understanding of the pathophysiological mechanisms, better anti-arrhythmic strategies, and, in particular, more epidemiological data on exercise-induced arrhythmia in active athletes with channelopathies have changed the universal recommendation [ncbi.nlm.nih.gov]

Epidemiology of migraine and headache in children and adolescents. Curr Pain Headache Rep. 2013 Jun. 17 (6):341. [Medline]. Lewis DW. Pediatric migraine. Neurol Clin. 2009 May. 27(2):481-501. [Medline]. Bille B. [medscape.com]

Because familial SSS is relatively rare, the prevalence and functional consequences of these mutations and the epidemiological characteristics have not been extensively studied. [ahajournals.org]

In: GI Epidemiology, edited by Talley NJ, Locke GR 3rd, Saito YR. Oxford: Blackwell, 2007, p. 176–183. Google Scholar 21 Saito YA, Petersen GM, Locke GR 3rd, Talley NJ. The genetics of irritable bowel syndrome. [physiology.org]

Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [nature.com]

The approaches of our study would provide new insights into the molecular basis of cardiac sodium channel regulation and the pathophysiological mechanisms underlying cardiac arrhythmias with sodium channelopathy. [grantome.com]

This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases. [ncbi.nlm.nih.gov]

Hyperphosphorylation, which is the main abnormality upstream to ion channels, can be targeted for suppressing the deterioration of ion channelopathy in terms of new drug discovery in the treatment and prevention of malignant cardiac arrhythmias. [ncbi.nlm.nih.gov]

PREVENTION AND SAFETY In ion channel disorders, preventive therapy before surgery, such as maintaining a normal body temperature, maintaining serum potassium concentration at low level, and avoiding hypoglycemia help to prevent such attacks. [rarediseasesnetwork.org]

Attacks of weakness can be prevented by appropriate treatment in nearly all patients. The myotonic disorders are characterized by muscle stiffness and occasionally pain, but usually without progressive weakness. [oxfordmedicine.com]