Ion channel dysfunction or "channelopathy" is a proven cause of epilepsy in the relatively uncommon genetic epilepsies with Mendelian inheritance. But numerous examples of acquired channelopathy in experimental animal models of epilepsy following brain injury have also been demonstrated. Our understanding of channelopathy has grown due to advances in electrophysiology techniques that have allow...

UNLABELLED Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. CASE REPORT Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A m...

PURPOSE Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to im...

The European and Bethesda recommendations roughly state that any athlete with channelopathy is not eligible to participate in sports on a presumed risk of potentially life-threatening ventricular tachycardia or fibrillation. However, eligibility decision-making on a presumed risk of ventricular tachycardia or fibrillation is debatable. Channelopathies are primary electrical cardiac disorders an...

Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic ...

IMPORTANCE Hypokalemic periodic paralysis is a muscle channelopathy based on mutations or predisposing variants or secondary to potassium wasting. In contrast to myasthenia gravis, an association with thymic hyperplasia has not yet been reported, to our knowledge. OBSERVATIONS We report a male patient in his mid-20s with progressive episodes of flaccid muscle weakness, associated low serum po...

Background Membrane proteins such as cell adhesion molecules, receptors, transporters and ion channel proteins all have essential roles in cell-growth, migration, and flow of information, cell-cell and cell-protein communication. Membrane proteins are targets of biopharmaceutical companies because they have diverse effects on the progression of many diseases [1]. Ion channels are membrane prote...

Abstarct : Thyrotoxic periodic paralysis is a disorder in which there are episodes of muscle weakness in people with high levels of thyroid hormones. It is a channelopathy characterized by an abnormality in the Na/K+ ATPase pump due to the effect of excess thyroid hormones which cause an intracellular shift of potassium leading to hypokalaemia in the presence of normal total body potassium. The...