Voltage-gated calcium channels and idiopathic generalized epilepsies.

Voltage-Gated Channels as Causative Agents for Epilepsies

Problem statement: Epilepsy is a common neurological disorder that afflicts 1-2% of the general population worldwide. It encompasses a variety of disorders with seizures. Approach: Idiopathic epilepsies were defined as a heterogeneous group of seizure disorders that show no underlying cause .Voltage-gated ion channels defect were recognized etiology of epilepsy in the central nervous system. Th...

Ion channel defects in idiopathic epilepsies.

Idiopathic epilepsies are genetically determined diseases of the central nervous system characterized by typical epileptic seizures and EEG abnormalities but not associated with structural brain lesions. In recent years, an increasing number of mutations associated with idiopathic epilepsy syndromes were identified in genes encoding subunits of voltage- or ligand-gated ion channels. These encou...

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

Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes. They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes. We describe a family of South Indian descent with hypokalemic periodic paralysis in which four members also have i...

Functional Characterization of Voltage-gated Sodium Channels associated with human Idiopathic Epilepsies

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...