Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.C1396*
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SCN1A

NM_001165963.4:p.C1396*

Associated Papers

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

Teralı K et al.

Clinical and Translational Science, 2024

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Large-scale structural alteration of brain in epileptic children with SCN1A mutation.

Lee YJ et al.

Neuroimage. Clinical, 2017

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