Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V892A
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SCN8A

NM_001330260.2:p.V892A

Associated Papers

Beyond seizures: SCN8A heterozygous mutation presenting with epilepsy and paroxysmal dyskinesia.

Zhang X et al.

Annals of Medicine and Surgery (2012), 2025

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

Hack JB et al.

Biology Open, 2024

38466077 (PubMed )
Supplement: biolopen-13-060286-TableS1.xlsx › Sheet1

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

Keshri S et al.

Acta Bio-medica : Atenei Parmensis, 2022

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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."