Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R1638C
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SCN8A

NM_001330260.2:p.R1638C

Associated Papers

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Lyu H et al.

Ebiomedicine, 2023

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

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Brunklaus A et al.

Epilepsia, 2020

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.

Wengert ER 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."