Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability.
Zybura AS et al.
Cells, 2022
Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.
Xu C et al.
Journal of Central Nervous System Disease, 2021
Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.
Adney SK et al.
Annals of Clinical and Translational Neurology, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Myers CT et al.
The New England Journal of Medicine, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM et al.
Epilepsy Research, 2017
Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.
Patel RR et al.
Brain : a Journal of Neurology, 2016
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E et al.
Annals of Neurology, 2016
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U et al.
Journal of Child Neurology, 2014
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Estacion M et al.
Neurobiology of Disease, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C et al.
Epilepsia, 2014
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
O'Brien JE et al.
Frontiers in Genetics, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL et al.
Nature Genetics, 2013
Select a paper to view details