Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.L213P
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SCN8A

NM_001330260.2:p.L213P

Associated Papers

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.

Pachchek S et al.

Npj Parkinson's Disease, 2023

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

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Denis J 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."