Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.A1650T
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SCN8A

NM_001330260.2:p.A1650T

Associated Papers

SCN8A Encephalopathy: Case Report and Literature Review.

Fan HC et al.

Neurology International, 2021

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM et al.

Epilepsia, 2019

The phenotype of SCN8A developmental and epileptic encephalopathy.

Gardella E et al.

Neurology, 2018

Early-onset epileptic encephalopathy with de novo SCN8A mutation.

Xiao Y et al.

Epilepsy Research, 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

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Gardella E et al.

Annals of Neurology, 2016

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

Takahashi S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Wagnon JL et al.

Frontiers in Neurology, 2015

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C et al.

Epilepsia, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."