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...

Brugada syndrome is an inherited disorder characterized by a channelopathy of cardiac sodium, potassium, and calcium channel. The pathophysiology this not completely elucidated yet, however, most the reported cases are caused pathogenic alteration in SCN5A gene, leading to malfunction sodium channels. Several stressors well known unmask pathology including fever electrolytes imbalance. Three EC...

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...

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling multisystemic condition. The pathomechanism of ME/CFS remains unestablished; however, impaired natural killer (NK) cell cytotoxicity consistent feature this Calcium (Ca2+) crucial for NK effector functions. Growing research recognises Ca2+ signalling dysregulation in patients and implicates transient receptor potential i...

Primary hyperparathyroidism is a disease characterized by elevated serum calcium and inappropriately raised parathyroid hormone (PTH) levels. Its prevalence is 3/1000 in the general population. Common symptoms include fatigue, thirst, epigastric pain, renal colic and depression. 90% of cases are caused by single parathyroid adenomas and the treatment usually involves surgical excision of the ab...