Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.I1605T
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SCN8A

NM_001330260.2:p.I1605T

Associated Papers

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Zhang S et al.

Pediatric Research, 2025

40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1

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

Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.

Hu C et al.

Seizure, 2022

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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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."