Publications:

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

Cells

Zayat, Valery V; Szlendak, Roza R; Hoffman-Zacharska, Dorota D

Publication Date: 2022-10-04

Variant appearance in text: SCN1A: Gln1923Arg

PubMed Link: 36231081

Variant Present in the following documents:

• Main text

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

Frontiers In Molecular Neuroscience

Weng, Octavia Yifang OY; Li, Yun Y; Wang, Lu-Yang LY

Publication Date: 2022

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 35359577

Variant Present in the following documents:

• Main text
• fnmol-15-810081.pdf

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

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 35037686

Variant Present in the following documents:

• Main text
• awac006.pdf
• awac006_Supplementary_Data.pdf

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Nucleic Acid-Based Therapeutics in Orphan Neurological Disorders: Recent Developments.

Frontiers In Molecular Biosciences

Khorkova, Olga O; Hsiao, Jane J; Wahlestedt, Claes C

Publication Date: 2021

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 33996898

Variant Present in the following documents:

• Main text
• fmolb-08-643681.pdf

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Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.

International Journal Of Molecular Sciences

Sterlini, Bruno B; Fruscione, Floriana F; Baldassari, Simona S; Benfenati, Fabio F; Zara, Federico F; Corradi, Anna A

Publication Date: 2020-01-12

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 31940887

Variant Present in the following documents:

• Main text
• ijms-21-00482.pdf

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

Epilepsia Open

Zhou, Ruijiao R; Jiang, Guohui G; Tian, Xin X; Wang, Xuefeng X

Publication Date: 2018-09

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 30187003

Variant Present in the following documents:

• Main text
• EPI4-3-331.pdf

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

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 5768A>G; Gln1923Arg

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.

Translational Psychiatry

Liu, J J; Gao, C C; Chen, W W; Ma, W W; Li, X X; Shi, Y Y; Zhang, H H; Zhang, L L; Long, Y Y; Xu, H H; Guo, X X; Deng, S S; Yan, X X; Yu, D D; Pan, G G; Chen, Y Y; Lai, L L; Liao, W W; Li, Z Z

Publication Date: 2016-01-05

Variant appearance in text: Nav1.1: Q1923R

PubMed Link: 26731440

Variant Present in the following documents:

• Main text
• tp2015203a.pdf

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

Stem Cells (Dayton, Ohio)

Tidball, Andrew M AM; Parent, Jack M JM

Publication Date: 2016-01

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 26373465

Variant Present in the following documents:

• Main text

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

Journal Of Neurogenetics

Srikanth, Priya P; Young-Pearse, Tracy L TL

Publication Date: 2014

Variant appearance in text: SCN1A: Q1923R

PubMed Link: 24628482

Variant Present in the following documents:

• Main text

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