Genetics of epilepsies

Danielle M. Andrade, Berge A. Minassian

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

Epilepsy affects almost 1% of the population, and yet the pathophysiology of this disorder is unknown in the majority of the cases. Recently, a number of mutations in different genes were identified, mostly in cases of familial epilepsy with a Mendelian mode of inheritance. The majority of these genes code for voltage- or ligand-gated ion channels. Interestingly, not only generalized epilepsies, but also focal epilepsies were shown to be caused by mutated genes, which in some cases are expressed ubiquitously in the brain. This review will focus on the monogenic familial epilepsies and the clinical and molecular aspects of these diseases.

Original languageEnglish (US)
Pages (from-to)727-734
Number of pages8
JournalExpert Review of Neurotherapeutics
Volume7
Issue number6
DOIs
StatePublished - Jun 1 2007

Fingerprint

Epilepsy
Genes
Ligand-Gated Ion Channels
Generalized Epilepsy
Partial Epilepsy
Mutation
Brain
Population

Keywords

  • Epilepsy
  • Gene
  • Generalized
  • Genetics
  • Ion channel
  • Monogenic
  • Partial onset
  • Polygenic
  • Transient epilepsy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Pharmacology (medical)

Cite this

Genetics of epilepsies. / Andrade, Danielle M.; Minassian, Berge A.

In: Expert Review of Neurotherapeutics, Vol. 7, No. 6, 01.06.2007, p. 727-734.

Research output: Contribution to journalReview article

Andrade, Danielle M. ; Minassian, Berge A. / Genetics of epilepsies. In: Expert Review of Neurotherapeutics. 2007 ; Vol. 7, No. 6. pp. 727-734.
@article{d1e9f97630044074bf47b071d8572a94,
title = "Genetics of epilepsies",
abstract = "Epilepsy affects almost 1{\%} of the population, and yet the pathophysiology of this disorder is unknown in the majority of the cases. Recently, a number of mutations in different genes were identified, mostly in cases of familial epilepsy with a Mendelian mode of inheritance. The majority of these genes code for voltage- or ligand-gated ion channels. Interestingly, not only generalized epilepsies, but also focal epilepsies were shown to be caused by mutated genes, which in some cases are expressed ubiquitously in the brain. This review will focus on the monogenic familial epilepsies and the clinical and molecular aspects of these diseases.",
keywords = "Epilepsy, Gene, Generalized, Genetics, Ion channel, Monogenic, Partial onset, Polygenic, Transient epilepsy",
author = "Andrade, {Danielle M.} and Minassian, {Berge A.}",
year = "2007",
month = "6",
day = "1",
doi = "10.1586/14737175.7.6.727",
language = "English (US)",
volume = "7",
pages = "727--734",
journal = "Expert Review of Neurotherapeutics",
issn = "1473-7175",
publisher = "Expert Reviews Ltd.",
number = "6",

}

TY - JOUR

T1 - Genetics of epilepsies

AU - Andrade, Danielle M.

AU - Minassian, Berge A.

PY - 2007/6/1

Y1 - 2007/6/1

N2 - Epilepsy affects almost 1% of the population, and yet the pathophysiology of this disorder is unknown in the majority of the cases. Recently, a number of mutations in different genes were identified, mostly in cases of familial epilepsy with a Mendelian mode of inheritance. The majority of these genes code for voltage- or ligand-gated ion channels. Interestingly, not only generalized epilepsies, but also focal epilepsies were shown to be caused by mutated genes, which in some cases are expressed ubiquitously in the brain. This review will focus on the monogenic familial epilepsies and the clinical and molecular aspects of these diseases.

AB - Epilepsy affects almost 1% of the population, and yet the pathophysiology of this disorder is unknown in the majority of the cases. Recently, a number of mutations in different genes were identified, mostly in cases of familial epilepsy with a Mendelian mode of inheritance. The majority of these genes code for voltage- or ligand-gated ion channels. Interestingly, not only generalized epilepsies, but also focal epilepsies were shown to be caused by mutated genes, which in some cases are expressed ubiquitously in the brain. This review will focus on the monogenic familial epilepsies and the clinical and molecular aspects of these diseases.

KW - Epilepsy

KW - Gene

KW - Generalized

KW - Genetics

KW - Ion channel

KW - Monogenic

KW - Partial onset

KW - Polygenic

KW - Transient epilepsy

UR - http://www.scopus.com/inward/record.url?scp=34250377246&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34250377246&partnerID=8YFLogxK

U2 - 10.1586/14737175.7.6.727

DO - 10.1586/14737175.7.6.727

M3 - Review article

VL - 7

SP - 727

EP - 734

JO - Expert Review of Neurotherapeutics

JF - Expert Review of Neurotherapeutics

SN - 1473-7175

IS - 6

ER -