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Molecular Basis of Inherited Epilepsy
Alfred L. George, Jr, MD
Arch Neurol. 2004;61:473-478.
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INTRODUCTION
Epilepsy is a common, paroxysmal, and heterogeneous neurological disorder. Many factors, including complex genetic influences, contribute to the pathogenesis of epilepsy. However, several epilepsy syndromes are caused by mutations in single genes (Table 1). Most epilepsy-associated genes that have been identified within the past 5 years encode ion channels. This review illustrates the progress in defining the molecular basis of inherited epilepsies and highlights conditions caused by dysfunctional ion channels.
Table appears in full text version.
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Ion channels may be broadly classified as voltage or ligand gated, depending on whether the primary stimulus for their activity is a change in local membrane potential or a chemical messenger (eg, neurotransmitter). The role of ion channels in neuronal excitability is well established, and the identification of mutations in neuronal ion channel genes linked to inherited epilepsy emphasizes the delicate balances that maintain electrical harmony in the central nervous system. . . . [Full Text of this Article]
IDENTIFYING AND CHARACTERIZING EPILEPSY GENES
Molecular Genetic Approaches to Finding Epilepsy Genes Characterizing the Molecular Physiology of Mutant Ion Channels in Epilepsy
ADVANCES IN UNDERSTANDING SPECIFIC EPILEPSY SYNDROMES
Epilepsy Associated With Voltage-Gated Potassium Channels Epilepsy Associated With Voltage-Gated Sodium Channels Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Epilepsies Associated With Voltage- and Ligand-Gated Chloride Channels
RELEVANCE TO NEUROSCIENCE AND THE PRACTICE OF NEUROLOGY
From the Division of Genetic Medicine, Departments of Medicine and Pharmacology, Vanderbilt University, Nashville, Tenn.
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