Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysis in a Family of South Indian Descent

Sodium channelopathies in skeletal muscle and brain

Ion channel disorders are rare inherited diseases providing interesting models to study dysfunction of excitability in vivo and in vitro. The first socalled ‘channelopathies’ identified were skeletal muscle diseases, the myotonias and hyperkalemic periodic paralysis (HyperPP), which are sodium or chloride channel disorders. Within the last 5–10 years, complementary genetic and electrophysiologi...

Accidental intravenous bolus infusion of potassium chloride in a young man with hypokalemic periodic paralysis

Hypokalemic periodic paralysis is anautosomal dominantdisease characterized by muscle weakness or paralysis with a matching fall in blood potassium levels. Paralysis attacks often occur in adolescence and are induced by strenuous exercise followed by rest, high carbohydrateor high sodiummeal content, sudden changes in temperature, and even excitement, noise, flashing lights and cold temperature...

Lambert-Eaton myasthenic syndrome, incomplete X-linked congenital stationary night blindness, X-linked cone-rod dystrophy, hypokalemic periodic paralysis, malignant hyperthermia susceptibility, Timothy syndrome, idiopathic generalized epilepsy, autism spectrum disorders, lethargic, ducky, stargazin

Since the initial identification of native calcium currents, significant progress has been made towards our understanding of the molecular and cellular contributions of voltage-gated calcium channels in multiple physiological processes. Moreover, we are beginning to comprehend their pathophysiological roles through both naturally occurring channelopathies in humans and mice and through targeted...

BILATERAL SUDDEN SENSORINEURAL HEARING LOSS (SSHL) WITH HYPOKALEMIC PERIODIC PARALYSIS (HPP)

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis

We report the clinical features of, and the molecular study performed on, a Spanish family with essential tremor (ET), late onset epilepsy and autosomal dominant hypokalemic periodic paralysis (hypoPP). The presence of hypoPP in this kindred suggested an ion channel as a candidate gene for ET. Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutatio...