Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.G1421W
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SCN1A

NM_001165963.4:p.G1421W

Associated Papers

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Zayat V et al.

Cells, 2022

Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.

Weng OY et al.

Frontiers in Molecular Neuroscience, 2022

Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.

Sabitha KR et al.

Neuroscience and Biobehavioral Reviews, 2021

Stem cells: A path towards improved epilepsy therapies.

Lybrand ZR et al.

Neuropharmacology, 2020

Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients.

Kim HW et al.

Brain & Development, 2018

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.

Cho MJ et al.

Journal of Clinical Neurology (seoul, Korea), 2018

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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."