Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.N1318S
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SCN8A

NM_001330260.2:p.N1318S

Associated Papers

Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China.

Peng BW et al.

Brain : a Journal of Neurology, 2022

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Ademuwagun IA et al.

Frontiers in Neurology, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.

Lin KM et al.

Bmc Pediatrics, 2019

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM et al.

Epilepsia, 2019

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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."