Edit concept Question Editor Create issue ticket

Channelopathy


Presentation

  • 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]
  • To describe stridor as the presenting feature in a neonate with the skeletal muscle sodium channelopathy paramyotonia congenita. Case report.[ncbi.nlm.nih.gov]
  • We present a case demonstrating the phenotypic heterogeneity of antivoltage-gated potassium channels (VGKC)-associated disorders. Such cases may easily be dismissed as functional disorders at first presentation.[ncbi.nlm.nih.gov]
  • Sudden unexplained deaths (SUD) in apparently healthy individuals, for which the causes of deaths remained undetermined after comprehensive forensic investigations and autopsy, present vexing challenges to medical examiners and coroners.[ncbi.nlm.nih.gov]
  • The present paper explores the possibility that it may be related to a channelopathy.[ncbi.nlm.nih.gov]
Severe Pain
  • The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation.[ncbi.nlm.nih.gov]
  • Thus sequence analysis of this gene in 49 patients with IBS and moderate to severe pain was performed. In 1 of the 49 patients studied, all of whom fulfilled the Rome II criteria for IBS, we found a mutation in SCN5A (G298S).[physiology.org]
Crying
  • Persistent stridor was present for the first 6 months of life, and episodic stridor can still be exacerbated by intercurrent respiratory tract infection, cold, laughter, or crying.[ncbi.nlm.nih.gov]
Weight Loss
  • PATIENT DESCRIPTION: We describe a 12-year-old boy who presented with nine months of pain, anxiety, and 30-pound weight loss. He was admitted for failure to thrive, then noted to be persistently hypertensive and tachycardic.[ncbi.nlm.nih.gov]
Stridor
  • Persistent stridor was present for the first 6 months of life, and episodic stridor can still be exacerbated by intercurrent respiratory tract infection, cold, laughter, or crying.[ncbi.nlm.nih.gov]
Abdominal Pain
  • Fifty percent of the subjects with an SCN5A mutation reported abdominal pain compared to only 13% of controls (OR 5.7; 95% CI 1.3-24.4).[ncbi.nlm.nih.gov]
  • The finding of a predominance of abdominal pain in our previous study ( 11 ) and again in this patient with abdominal pain, however, suggests that additional mechanisms aside from changes in motility are also operative.[physiology.org]
Failure to Thrive
  • He was admitted for failure to thrive, then noted to be persistently hypertensive and tachycardic. Plasma metanephrines and urine metanephrines and catecholamines were elevated.[ncbi.nlm.nih.gov]
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]
Skeletal Dysplasia
  • TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia[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]
Visual Impairment
  • Abstract A channelopathy mutation in segment IIS6 of Ca(V)1.4 (I745T) has been shown to cause severe visual impairment by shifting the activation and inactivation curves to more hyperpolarized voltages and slowing activation and inactivation kinetics.[ncbi.nlm.nih.gov]
Neglect
  • I had been short changing my sleep needs, ignoring my energy levels by pushing too much, neglecting to take simple basic daily supplements and forgetting to maintain the most rudimentary aspects of reasonable self-care. Ok, so I’m human.[defeatcfs.net]
  • In axons, voltage-dependent chloride conductance is so small that it is usually neglected, whereas that of skeletal muscle is even larger than the resting conductance for potassium ( 49 ).[physrev.physiology.org]

Workup

  • 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

  • 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]
  • Treatment with intravenous immunoglobulin and pulse methylprednisolone led to complete resolution of symptoms, weight gain, and normalization of vital signs and plasma metanephrines.[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]
  • Increased insight into these issues would enable a major next step in research related to cardiac sodium channel disease, ultimately enabling improved diagnosis, risk stratification and treatment strategies.[ncbi.nlm.nih.gov]
  • The channelopathy model implies that pharmacologic treatment and the restoration of impaired γ-aminobutyric acid (GABA)ergic neurotransmission might not only help prevent seizures but might affect the comorbidities of the syndrome.[ncbi.nlm.nih.gov]

Prognosis

  • 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]
  • 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]
  • The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese-American men with follow-up of three decades. Am J Med Sci 2006; 331 : 25–29. 34. Van Norstrand DW, Valdivia CR, Tester DJ, et al.[nature.com]

Etiology

  • 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]
  • This appears to be a new neuromuscular disease, "paroxysmal neuromyotonia", the etiology of which is still unknown. Copyright 2012 Elsevier B.V. All rights reserved. [Indexed for MEDLINE] Free full text[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]
  • To uncover the underlying etiologies, all the family members underwent whole exome sequencing.[bloodjournal.org]

Epidemiology

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology and distinguishing clinical features of these conditions are reviewed. The patients in each case were ultimately diagnosed with a cardiac channelopathy as the cause for their syncope and refractory seizures.[ncbi.nlm.nih.gov]
  • Abstract Despite theoretical and experimental efforts to understand the space adaptation syndrome (SAS), which is responsible for spatial disorientation that severely affects physical and cognitive performance in astronauts, most of its pathophysiology[ncbi.nlm.nih.gov]
  • 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]
  • 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]
  • 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]

Prevention

  • 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]
  • The channelopathy model implies that pharmacologic treatment and the restoration of impaired γ-aminobutyric acid (GABA)ergic neurotransmission might not only help prevent seizures but might affect the comorbidities of the syndrome.[ncbi.nlm.nih.gov]
  • Abstract For the past few years, children affected by an inherited channelopathy have been counseled to avoid (recreational) sports activities and all competitive sports so as to prevent exercise-induced arrhythmia and sudden cardiac death.[ncbi.nlm.nih.gov]
  • Four hours after completion of the EPS, the VF-inducing PVC reappeared, requiring further defibrillations that were not prevented by the infusion of isoprenaline, beta blockers, or procainamide; for this reason, the EPS was repeated the next day.[revespcardiol.org]
  • In an earlier post, we learnt that children at risk of developing asthma, if identified and treated with a mast cell stabilizer, could be prevented from developing asthma. Once you have had one asthma attack, more will follow.[epiphanyasd.blogspot.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!