Accession Number : AD1013327

Title :   Epilepsy: The Role of the Super Family of Voltage Gated Ion Channels

Descriptive Note : Technical Report

Corporate Author : Uniformed Services University Of The Health Sciences Bethesda United States

Personal Author(s) : Jones,Edward L

Full Text :

Report Date : 22 Feb 2011

Pagination or Media Count : 107

Abstract : The superfamily of voltage gated ion channels is composed of channels regulating sodium, calcium or potassium entry into cells, regulated by alterations in the membrane potential. Dysregulation of members of this family often leads to the development of epilepsy. This review focuses on different mutations in this superfamily that are linked to the development of epilepsy and details the known mutations, the role of the specific mutated ion channel and the clinical consequences of each mutation. Disruption of voltage gated ion channel function can lead to increased excitability and contribute towards the development of epilepsy. The position of the mutation within the ion channel gene often influences the clinical presentation of symptoms, even for mutations within the same gene. A common feature of the superfamily of voltage gated ion channels is an alpha selective pore with augmentation by pore modifying protein subunits. Mutation of either the alpha pore or augmenting auxiliary proteins significantly alters ion channel function. An understanding of the molecular mechanisms of inherited epilepsy, will assist in establishing the etiology of all types of epilepsy and thus aid in the development of targeted therapeutics.

Descriptors :   theses , epilepsy , seizures , neurons , membrane potentials , neurosciences , anticonvulsants , genetics , proteins , cell membrane , therapeutics , high voltage , sodium , calcium , potassium , cells(biology) , mutations , genes

Distribution Statement : APPROVED FOR PUBLIC RELEASE