Recent advances in treatment of epilepsy-related sodium channelopathies.
Epilepsy
SCN1A
SCN1B
SCN2A
SCN8A
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
07
11
2019
accepted:
06
12
2019
pubmed:
1
1
2020
medline:
23
7
2020
entrez:
1
1
2020
Statut:
ppublish
Résumé
Voltage-gated sodium channels (VGSCs) play a crucial role in generation of action potentials. Pathogenic variants in the five human brain expressed VGSC genes, SCN1A, SCN2A, SCN3A, SCN8A and SCN1B have been associated with a spectrum of epilepsy phenotypes and neurodevelopmental disorders. In the last decade, next generation sequencing techniques have revolutionized the way we diagnose these channelopathies, which is paving the way towards precision medicine. Knowing the functional effect (Loss-of-function versus Gain-of-function) of a variant is not only important for understanding the underlying pathophysiology, but it is particularly crucial to orient therapeutic decisions. Here we provide a review of the literature dealing with treatment options in epilepsy-related sodium channelopathies, including the current and emerging medications.
Identifiants
pubmed: 31889633
pii: S1090-3798(19)30429-5
doi: 10.1016/j.ejpn.2019.12.009
pii:
doi:
Substances chimiques
Voltage-Gated Sodium Channels
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
123-128Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest No disclosures.