Recent advances in treatment of epilepsy-related sodium channelopathies
- PMID: 31889633
- DOI: 10.1016/j.ejpn.2019.12.009
Recent advances in treatment of epilepsy-related sodium channelopathies
Abstract
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.
Keywords: Epilepsy; SCN1A; SCN1B; SCN2A; SCN8A.
Copyright © 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Conflict of interest statement
Declaration of competing interest No disclosures.
Comment in
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Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification.Eur J Paediatr Neurol. 2020 Jan;24:7. doi: 10.1016/j.ejpn.2020.01.008. Epub 2020 Jan 10. Eur J Paediatr Neurol. 2020. PMID: 31980364 No abstract available.
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