Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.I1654N
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SCN8A

NM_001330260.2:p.I1654N

Associated Papers

Structure and function of voltage-gated sodium channel Nav1.6: Involvement in the pathological process of neural injury.

Wang H et al.

Neural Regeneration Research, 2025

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Johannesen KM et al.

Brain : a Journal of Neurology, 2022

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Hoelz H et al.

Clinical Eeg and Neuroscience, 2020

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

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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."