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Genetics of inherited human epilepsies

Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances...

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Detalles Bibliográficos
Autores principales: Gourfinkel-An, Isabelle, Baulac, Stéphanie, Brice, Alexis, Leguern, Eric, Baulac, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Les Laboratoires Servier 2001
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181638/
https://www.ncbi.nlm.nih.gov/pubmed/22034131
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author Gourfinkel-An, Isabelle
Baulac, Stéphanie
Brice, Alexis
Leguern, Eric
Baulac, Michel
author_facet Gourfinkel-An, Isabelle
Baulac, Stéphanie
Brice, Alexis
Leguern, Eric
Baulac, Michel
author_sort Gourfinkel-An, Isabelle
collection PubMed
description Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosis is now possible, simplifying previously complex investigations, it is expected that identification of the genes implicated in familial forms of epilepsies will lead to a better understanding of the underlying pathophysiological mechanisms of these disorders and to the development of experimental models and new therapeutic strategies, in this article, we review the clinical and genetic data concerning most of the inherited human epilepsies.
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spelling pubmed-31816382011-10-27 Genetics of inherited human epilepsies Gourfinkel-An, Isabelle Baulac, Stéphanie Brice, Alexis Leguern, Eric Baulac, Michel Dialogues Clin Neurosci Pharmacological Aspects Major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly spectacular with respect to idiopathic epilepsies, with the discovery that mutations in ion channel subunits are implicated. However, important advances have also been made in many inherited symptomatic epilepsies, for which direct molecular diagnosis is now possible, simplifying previously complex investigations, it is expected that identification of the genes implicated in familial forms of epilepsies will lead to a better understanding of the underlying pathophysiological mechanisms of these disorders and to the development of experimental models and new therapeutic strategies, in this article, we review the clinical and genetic data concerning most of the inherited human epilepsies. Les Laboratoires Servier 2001-03 /pmc/articles/PMC3181638/ /pubmed/22034131 Text en Copyright: © 2001 LLS http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Pharmacological Aspects
Gourfinkel-An, Isabelle
Baulac, Stéphanie
Brice, Alexis
Leguern, Eric
Baulac, Michel
Genetics of inherited human epilepsies
title Genetics of inherited human epilepsies
title_full Genetics of inherited human epilepsies
title_fullStr Genetics of inherited human epilepsies
title_full_unstemmed Genetics of inherited human epilepsies
title_short Genetics of inherited human epilepsies
title_sort genetics of inherited human epilepsies
topic Pharmacological Aspects
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181638/
https://www.ncbi.nlm.nih.gov/pubmed/22034131
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