Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep.

Frontiers in Neurology
Pu MiaoJianhua Feng

Abstract

Background: Nav1.2 encoded by the SCN2A gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in SCN2A-related epilepsy. However, the functional features and the relationship between SCN2A and ESES have not been researched. Method: We herein investigated the functional consequences of an unpublished de novo V911A and the other two published variants in patients with SCN2A-related disorder and ESES by whole-cell patch-clamp studies in transfected HEK293T cells. Results: The unpublished V911A and published K1933M variants detected in patients with DEE exhibited a profound gain-of-functional (GOF) change. Another published BFIS variant S863F significantly reduced current density as a loss-of-functional (LOF) change. The refractory epilepsy in the patient with V911A was controlled by using the precise treatment of oxcarbazepine (OXC) since the age of 3 months. ESES was found at 18 months during the seizure-free period. We...Continue Reading

References

Mar 6, 2015·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Francesco MiceliMaurizio Taglialatela
Sep 5, 2015·Epilepsia·Bart van den MunckhofFloor E Jansen
Apr 6, 2017·Brain : a Journal of Neurology·Markus WolffRikke S Møller
Aug 15, 2017·JAMA Neurology·Carolien G F de KovelBobby P C Koeleman
Oct 21, 2017·Brain : a Journal of Neurology·Silvia MasnadaGuido Rubboli
Jan 10, 2018·Epilepsia·Katrine M JohannesenRikke S Møller
Apr 25, 2018·Trends in Neurosciences·Stephan J SandersKevin J Bender
May 31, 2018·Proceedings of the National Academy of Sciences of the United States of America·Géza BereckiSteven Petrou
Aug 15, 2018·Brain : a Journal of Neurology·Stanislas LagardeFabrice Bartolomei
Apr 25, 2019·Nature Communications·Hiroyuki MiyamotoKazuhiro Yamakawa
Apr 30, 2019·Epilepsy Currents·Jerry J Shih
Jun 10, 2019·Annals of Neurology·Tristan T SandsM Roberta Cilio
Jun 11, 2019·Epileptic Disorders : International Epilepsy Journal with Videotape·Carlo Alberto Tassinari, Guido Rubboli
Jun 21, 2019·Epileptic Disorders : International Epilepsy Journal with Videotape·Guido Rubboli, Carlo Alberto Tassinari
Jan 7, 2020·Epilepsia·Ulrike B S HedrichHolger Lerche
Jan 12, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Claire ReynoldsKathleen M Gorman
Mar 21, 2020·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Claudia M BonardiGuido Rubboli
Apr 1, 2020·Developmental Medicine and Child Neurology·Andreas Brunklaus, Dennis Lal

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