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]

• Hyperthermia

  MALIGNANT HYPERTHERMIA Patients with ion channel diseases are at increased risk of malignant hyperthermia reactions with general anesthesia for surgery. [rarediseasesnetwork.org]

  For example, the calcium channelopathies include familial hemiplegic migraine, malignant hyperthermia (a rare but often fatal genetic condition during anesthesia), episodic ataxia type 2, spinocerebellar ataxia type 6, hypokalemic periodic paralysis type [medicinenet.com]

• Inflammation

  Clinical abnormalities in multiple sclerosis (MS) have traditionally been attributed to inflammation, demyelination, or degeneration of axons within the brain and spinal cord. [neurology.org]

  "Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions". Current Rheumatology Reports. 9 (6): 482–487. ISSN 1523-3774. [me-pedia.org]

  There is evidence that the wave of astroglia depolarization may lead to vascular alterations and eventual inflammation and pain ( 35 ). [jci.org]

  Role of TRPV1 in inflammation-induced airway hypersensitivity. Curr Opin Pharmacol 2009;9:243–249. 59. Caceres AI, Brackmann M, Elia MD, Bessac BF, del Camino D, D'Amours M.. [doi.org]

• Hypertension

  Abstract Why sympathetic activity rises in neurogenic hypertension remains unknown. [ncbi.nlm.nih.gov]

  Furthermore, pulmonary hypertension improvement has been demonstrated by restoring the expression of K + channels in a chronic hypoxic pulmonary hypertension rodent model (by treatment with a voltage-gated K + (K V ) channel activator or by gene transfer [erj.ersjournals.com]

  It is an inherited autosomal dominant form of endocrine hypertension (23). Affected patients present with hypertension, hypokalemia and metabolic alkalosis (23). [scielo.br]

• Tinnitus

  6] Retinitis pigmentosa (some forms) Ligand-gated non-specific ion channels Short QT syndrome various potassium channels suspected Temple–Baraitser syndrome Voltage-gated potassium channel, KCNH1[7] Timothy syndrome Voltage-dependent calcium channel Tinnitus [en.wikipedia.org]

• Ataxia

  EA1 AEM EAM 160120 Genetic Test Registry Episodic Ataxia, Type 2 Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia [ukgtn.nhs.uk]

  Exome analysis did not show any pathogenic variants in genes known to be associated with seizures and/or ataxia in children, including all known human channelopathies. [ncbi.nlm.nih.gov]

  Episodic ataxia type 2 (EA2) presents with prolonged attacks, migraine with or without progressive ataxia whereas episodic ataxia type 1 is associated with short-lived attacks with or without twitching of the muscles (neuromyotonia). [uhb.nhs.uk]

• Cerebellar Ataxia

  EA1 AEM EAM 160120 Genetic Test Registry Episodic Ataxia, Type 2 Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia [ukgtn.nhs.uk]

  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997; 15 :62–69. [ PubMed ] [ Google Scholar ] 5. [ncbi.nlm.nih.gov]

  Zhuchenko, O., et al., Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet, 1997;15(1):62-9. \ 18. Liu J, et al. [acnr.co.uk]

  A leaner mutant presents with seizures homologous to human petit mal (absences), ataxia, and progressive cerebellar degeneration. [physrev.physiology.org]

• Flaccid Paralysis

  HYPOKALEMIC HYPERKALEMICPREVELANCE 1:100,000 1:200,000AGE OF ONSET FIRST AND SECOND FIRST DECADE DECADE OF LIFESYMPTOMS DURING ACUTE ONSELT FLACCID WEAKNESS OFATTACKS PARALYSIS PROXIMAL PROXIMAL >>> DISTAL MUSCLE,SPARING BULBAR MUSCLESYMPTOMS BETWEEN [slideshare.net]

  This is very real, flaccid muscle paralysis. [stonebird.co.uk]

  TPP is the most frequent form of acquired acute flaccid paralysis in adults. Although it is most prevalent in Asian populations, TPP can occur in individuals of any ethnicity (11). [scielo.br]

• Agitation

  Channelopathies Glycine gated Cl channel Strychnine blocks - symptoms: - agitation, confusion - muscle spasms and stiffness - rhabdo, myoglobinuria, renal/resp failure - tetanus not a channelopathy Kyperekplexia - dominant inheritance > recessive - rigidity [emilytam.com]

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]

• Prolonged QT Interval

  Diagnosis Screening for LQTS includes measuring the QT interval on a resting ECG, but may also be measured during or after exercise to check for QT prolongation with physical activity. [pediatricepsociety.org]

  Seizures following hippocampal kindling induce QT interval prolongation and increased susceptibility to arrhythmias in rats. Epilepsy Res. 2013 Jul; 105(1-2):216-9. [smartscitech.com]

  Drug-induced QT prolongation defines “acquired” LQTS ( 25 ). [doi.org]

• Short QT Interval

  QT syndrome Short QT syndrome is a clinically malignant entity 2 characterized by a short QT interval ( 70 It may cause SD in neonates, because clinical manifestations may appear early in life. [nature.com]

  Short-QT Syndrome • Short-QT syndrome is described as a disorder characterized by abbreviated QT interval, ventricular and atrial arrhythmias, and sudden cardiac death. • There have been 70 short-QT syndrome cases reported worldwide, with the mean QTc [slideshare.net]

• Torsades De Pointes

  A premature ventricular contraction (PVC) again which may be initiated by swimming occurring during the vulnerable part of repolarisation leads to establishment of polymorphic ventricular tachycardia (torsades de pointes). [resus.me]

  Long QT syndrome • LQTS is a group of genetically transmitted disorders marked by QT prolongation and by episodes of syncope and sudden death due to torsades de pointes. • QT prolongation and susceptibility to torsades de pointes results from ion channel [slideshare.net]

  Abstract Background The long QT syndrome (LQTS) is an arrhythmogenic disorder of QT interval prolongation that predisposes patients to life-threatening ventricular arrhythmias such as Torsades de pointes and sudden cardiac death. [onlinejacc.org]

  Short-coupled variant of torsade de pointes. A new electrocardiographic entity in the spectrum of idiopathic ventricular tachyarrhythmias. Circulation. 1994;89:206-15. Medline 1885-5857/© 2011 Sociedad Española de Cardiología. [revespcardiol.org]

  de pointes), syncope, and sudden cardiac death.[1] The channelopathies of human skeletal muscle include hyper- and hypokalemic (high and low potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita. [en.wikipedia.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]

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]

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

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]