Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.A890T
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SCN8A

NM_001330260.2:p.A890T

Associated Papers

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

Keshri S et al.

Acta Bio-medica : Atenei Parmensis, 2022

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Kong W et al.

Epilepsia, 2015

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

Wagnon JL et al.

Frontiers in Neurology, 2015

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Zhang Y et al.

Plos One, 2015

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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."