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

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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title pharmacological reviews
Publication Year Start




PMID- 29263209
OWN - NLM
STAT- MEDLINE
DCOM- 20180103
LR  - 20180109
IS  - 1521-0081 (Electronic)
IS  - 0031-6997 (Linking)
VI  - 70
IP  - 1
DP  - 2018 Jan
TI  - Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted
      Therapies.
PG  - 142-173
LID - 10.1124/pr.117.014456 [doi]
AB  - 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.
CI  - Copyright (c) 2017 by The American Society for Pharmacology and Experimental
      Therapeutics.
FAU - Oyrer, Julia
AU  - Oyrer J
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.).
FAU - Maljevic, Snezana
AU  - Maljevic S
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.).
FAU - Scheffer, Ingrid E
AU  - Scheffer IE
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.).
FAU - Berkovic, Samuel F
AU  - Berkovic SF
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.).
FAU - Petrou, Steven
AU  - Petrou S
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.).
FAU - Reid, Christopher A
AU  - Reid CA
AD  - The Florey Institute of Neuroscience and Mental Health, University of Melbourne, 
      Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of
      Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne,
      Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of
      Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.)
      [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Pharmacol Rev
JT  - Pharmacological reviews
JID - 0421737
RN  - 0 (Anticonvulsants)
RN  - 0 (Ion Channels)
SB  - IM
MH  - Animals
MH  - Anticonvulsants/pharmacology/therapeutic use
MH  - Epilepsy/drug therapy/*genetics/metabolism
MH  - Humans
MH  - Ion Channels/antagonists & inhibitors/*genetics/metabolism
MH  - Molecular Targeted Therapy
PMC - PMC5738717
EDAT- 2017/12/22 06:00
MHDA- 2018/01/04 06:00
CRDT- 2017/12/22 06:00
PMCR- 2019/01/01 00:00
PHST- 2017/07/13 00:00 [received]
PHST- 2017/10/02 00:00 [accepted]
PHST- 2019/01/01 00:00 [pmc-release]
PHST- 2017/12/22 06:00 [entrez]
PHST- 2017/12/22 06:00 [pubmed]
PHST- 2018/01/04 06:00 [medline]
AID - 70/1/142 [pii]
AID - 10.1124/pr.117.014456 [doi]
PST - ppublish
SO  - Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456.