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Molecular Basis of Inherited Epilepsy

Molecular Basis of Inherited Epilepsy BASIC SCIENCE SEMINARS IN NEUROLOGY SECTION EDITOR: HASSAN M. FATHALLAH-SHAYKH, MD Alfred L. George, Jr, MD pilepsy is a common, paroxysmal, and heterogeneous neurological disorder. Many fac- tors, including complex genetic influences, contribute to the pathogenesis of epilepsy. However, several epilepsy syndromes are caused by mutations in single genes (Table). E Most epilepsy-associated genes that have been identified within the past 5 years en- code ion channels. This review illustrates the progress in defining the molecular basis of inherited epilepsies and highlights conditions caused by dysfunctional ion channels. Ion channels may be broadly classified as dreds. The use of genetic linkage analysis voltage or ligand gated, depending on has become the traditional approach to whether the primary stimulus for their ac- search for genes responsible for Mende- tivity is a change in local membrane po- lian disorders (ie, caused by a single gene), tential or a chemical messenger (eg, neu- an approach called positional cloning. In rotransmitter). The role of ion channels positional cloning, once linkage is estab- in neuronal excitability is well estab- lished with a chromosomal region that har- lished, and the identification of muta- bors the disease-causing gene, the next tions in neuronal ion channel genes http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

Molecular Basis of Inherited Epilepsy

George, Jr, Alfred L.
JAMA Neurology , Volume 61 (4) – Apr 1, 2004
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References (35)

Publisher
American Medical Association
Copyright
Copyright 2004 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6149
eISSN
2168-6157
DOI
10.1001/archneur.61.4.473
pmid
15096393
Publisher site
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Abstract

BASIC SCIENCE SEMINARS IN NEUROLOGY SECTION EDITOR: HASSAN M. FATHALLAH-SHAYKH, MD Alfred L. George, Jr, MD pilepsy is a common, paroxysmal, and heterogeneous neurological disorder. Many fac- tors, including complex genetic influences, contribute to the pathogenesis of epilepsy. However, several epilepsy syndromes are caused by mutations in single genes (Table). E Most epilepsy-associated genes that have been identified within the past 5 years en- code ion channels. This review illustrates the progress in defining the molecular basis of inherited epilepsies and highlights conditions caused by dysfunctional ion channels. Ion channels may be broadly classified as dreds. The use of genetic linkage analysis voltage or ligand gated, depending on has become the traditional approach to whether the primary stimulus for their ac- search for genes responsible for Mende- tivity is a change in local membrane po- lian disorders (ie, caused by a single gene), tential or a chemical messenger (eg, neu- an approach called positional cloning. In rotransmitter). The role of ion channels positional cloning, once linkage is estab- in neuronal excitability is well estab- lished with a chromosomal region that har- lished, and the identification of muta- bors the disease-causing gene, the next tions in neuronal ion channel genes

Journal

JAMA Neurology – American Medical Association

Published: Apr 1, 2004

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