PMID- 31889633
OWN - NLM
STAT- MEDLINE
DCOM- 20200722
LR  - 20200722
IS  - 1532-2130 (Electronic)
IS  - 1090-3798 (Linking)
VI  - 24
DP  - 2020 Jan
TI  - Recent advances in treatment of epilepsy-related sodium channelopathies.
PG  - 123-128
LID - S1090-3798(19)30429-5 [pii]
LID - 10.1016/j.ejpn.2019.12.009 [doi]
AB  - 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.
CI  - Copyright (c) 2019 European Paediatric Neurology Society. Published by Elsevier 
      Ltd. All rights reserved.
FAU - Musto, Elisa
AU  - Musto E
AD  - Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy 
      Centre, Dianalund, Denmark; Pediatric Neurology, Department of Woman and Child 
      Health and Public Health, Catholic University UCSC, Child Health Area, Rome, 
      Italy.
FAU - Gardella, Elena
AU  - Gardella E
AD  - Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy 
      Centre, Dianalund, Denmark; Department of Regional Health Research, Faculty of 
      Health Sciences, University of Southern Denmark, Denmark.
FAU - Moller, Rikke S
AU  - Moller RS
AD  - Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy 
      Centre, Dianalund, Denmark; Department of Regional Health Research, Faculty of 
      Health Sciences, University of Southern Denmark, Denmark. Electronic address: 
      rimo@filadelfia.dk.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20191218
PL  - England
TA  - Eur J Paediatr Neurol
JT  - European journal of paediatric neurology : EJPN : official journal of the 
      European Paediatric Neurology Society
JID - 9715169
RN  - 0 (Voltage-Gated Sodium Channels)
SB  - IM
CIN - Eur J Paediatr Neurol. 2020 Jan;24:7. PMID: 31980364
MH  - Channelopathies/*drug therapy/*genetics
MH  - Epilepsy/*drug therapy/*genetics
MH  - Humans
MH  - Voltage-Gated Sodium Channels/*genetics
OTO - NOTNLM
OT  - Epilepsy
OT  - SCN1A
OT  - SCN1B
OT  - SCN2A
OT  - SCN8A
COIS- Declaration of competing interest No disclosures.
EDAT- 2020/01/01 06:00
MHDA- 2020/07/23 06:00
CRDT- 2020/01/01 06:00
PHST- 2019/11/07 00:00 [received]
PHST- 2019/12/06 00:00 [accepted]
PHST- 2020/01/01 06:00 [pubmed]
PHST- 2020/07/23 06:00 [medline]
PHST- 2020/01/01 06:00 [entrez]
AID - S1090-3798(19)30429-5 [pii]
AID - 10.1016/j.ejpn.2019.12.009 [doi]
PST - ppublish
SO  - Eur J Paediatr Neurol. 2020 Jan;24:123-128. doi: 10.1016/j.ejpn.2019.12.009. Epub 
      2019 Dec 18.