Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.H939R
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SCN1A

NM_001165963.4:p.H939R

Associated Papers

Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.

Zhang G et al.

Frontiers in Neuroscience, 2025

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome.

Mavashov A et al.

Frontiers in Cellular Neuroscience, 2023

Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.

Dyment DA et al.

Genetics, 2020

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

Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS.

Das A et al.

Eneuro, 0

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