Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.F1415I
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SCN1A

NM_001165963.4:p.F1415I

Associated Papers

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

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Turner TJ et al.

Journal of Neurochemistry, 2021

Stem cells: A path towards improved epilepsy therapies.

Lybrand ZR et al.

Neuropharmacology, 2020

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A et al.

Human Mutation, 2020

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.

Xie Y et al.

Neurobiology of Disease, 2020

Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.

Zhou R et al.

Epilepsia Open, 2018

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Schutte SS et al.

Journal of Neurophysiology, 2016

Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells.

Tidball AM et al.

Stem Cells (dayton, Ohio), 2016

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.

Jiao J et al.

Human Molecular Genetics, 2013

Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.

Srikanth P et al.

Journal of Neurogenetics, 0

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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."