Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching—from precise diagnosis and classification of syndromes to the discovery and...

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Published inPharmacological reviews Vol. 70; no. 1; pp. 142 - 173
Main Authors Oyrer, Julia, Maljevic, Snezana, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven, Reid, Christopher A.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.01.2018
The American Society for Pharmacology and Experimental Therapeutics
Subjects
Animals
Anticonvulsants - pharmacology
Anticonvulsants - therapeutic use
Epilepsy - drug therapy
Epilepsy - genetics
Epilepsy - metabolism
Humans
Ion Channels - antagonists & inhibitors
Ion Channels - genetics
Ion Channels - metabolism
Molecular Targeted Therapy
Review
HCN
JME
GGE
CAE
EEG
nAChR
iPSC
NMDA
ADNFLE
GEFS
Online AccessGet full text

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Abstract Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching—from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.
AbstractList Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching—from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.
Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching-from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of disease-causing genes. The impact of these genetic discoveries is wide reaching-from precise diagnosis and classification of syndromes to the discovery and validation of new drug targets and the development of disease-targeted therapeutic strategies. About 25% of genes identified in epilepsy encode ion channels. Much of our understanding of disease mechanisms comes from work focused on this class of protein. In this study, we review the genetic, molecular, and physiologic evidence supporting the pathogenic role of a number of different voltage- and ligand-activated ion channels in genetic epilepsy. We also review proposed disease mechanisms for each ion channel and highlight targeted therapeutic strategies.
Author Scheffer, Ingrid E.
Oyrer, Julia
Maljevic, Snezana
Petrou, Steven
Berkovic, Samuel F.
Reid, Christopher A.
Author_xml – sequence: 1
  givenname: Julia
  surname: Oyrer
  fullname: Oyrer, Julia
– sequence: 2
  givenname: Snezana
  surname: Maljevic
  fullname: Maljevic, Snezana
– sequence: 3
  givenname: Ingrid E.
  surname: Scheffer
  fullname: Scheffer, Ingrid E.
– sequence: 4
  givenname: Samuel F.
  surname: Berkovic
  fullname: Berkovic, Samuel F.
– sequence: 5
  givenname: Steven
  surname: Petrou
  fullname: Petrou, Steven
– sequence: 6
  givenname: Christopher A.
  surname: Reid
  fullname: Reid, Christopher A.
  email: christopher.reid@florey.edu.au
BackLink https://www.ncbi.nlm.nih.gov/pubmed/29263209$$D View this record in MEDLINE/PubMed
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Snippet Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing collection of...
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SubjectTerms Animals
Anticonvulsants - pharmacology
Anticonvulsants - therapeutic use
Epilepsy - drug therapy
Epilepsy - genetics
Epilepsy - metabolism
Humans
Ion Channels - antagonists & inhibitors
Ion Channels - genetics
Ion Channels - metabolism
Molecular Targeted Therapy
Review
Title Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies
URI https://dx.doi.org/10.1124/pr.117.014456
https://www.ncbi.nlm.nih.gov/pubmed/29263209
https://www.proquest.com/docview/1979506152
https://pubmed.ncbi.nlm.nih.gov/PMC5738717
Volume 70
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