Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1782212778735435776 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3181638 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2001 |
publisher | Les Laboratoires Servier |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT gourfinkelanisabelle geneticsofinheritedhumanepilepsies AT baulacstephanie geneticsofinheritedhumanepilepsies AT bricealexis geneticsofinheritedhumanepilepsies AT leguerneric geneticsofinheritedhumanepilepsies AT baulacmichel geneticsofinheritedhumanepilepsies |