Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R119I
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SCN2A

NM_001040142.2:p.R119I

Associated Papers

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Tan M et al.

Epilepsia, 2026

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Berg AT et al.

Brain : a Journal of Neurology, 2024

38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1
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