Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.T217R
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SCN1A

NM_001165963.4:p.T217R

Associated Papers

Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndrome.

Mzezewa R et al.

Neuroscience Research, 2025

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

Zayat V et al.

Cells, 2022

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment.

Schuster J et al.

Neurobiology of Disease, 2019

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.

Schuster J et al.

Stem Cell Research, 2019

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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."