Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V891M
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SCN8A

NM_001330260.2:p.V891M

Associated Papers

Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.

Podkorytova I et al.

The Journal of International Medical Research, 2025

Cryo-EM structure of human voltage-gated sodium channel Nav1.6.

Fan X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Epilepsy surgery in patient with monogenic epilepsy related to SCN8A mutation.

Podkorytova I et al.

Epilepsy & Behavior Reports, 2022

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

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

Wang J et al.

Bmc Medical Genetics, 2017

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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."