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: Nav1.1: Gly1421Trp

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: 4261G>T

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: G1421W

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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

Neuroscience And Biobehavioral Reviews

Sabitha, K R KR; Shetty, Ashok K AK; Upadhya, Dinesh D

Publication Date: 2021-02

Variant appearance in text: Nav1.1: 4261G>T

PubMed Link: 33370574

Variant Present in the following documents:

• Main text

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Stem cells: A path towards improved epilepsy therapies.

Neuropharmacology

Lybrand, Zane R ZR; Goswami, Sonal S; Hsieh, Jenny J

Publication Date: 2020-05-15

Variant appearance in text: SCN1A: 4261G>T

PubMed Link: 31539537

Variant Present in the following documents:

• Main text

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

Journal Of Clinical Neurology (Seoul, Korea)

Cho, Min Jung MJ; Kwon, Soon Sung SS; Ko, Ara A; Lee, Seung Tae ST; Lee, Young Mock YM; Kim, Heung Dong HD; Chung, Hee Jung HJ; Kim, Se Hee SH; Lee, Joon Soo JS; Kim, Dae Sung DS; Kang, Hoon Chul HC

Publication Date: 2018-01

Variant appearance in text: SCN1A: 4261G>T; Gly1421Trp

PubMed Link: 29141279

Variant Present in the following documents:

• Main text
• jcn-14-22.pdf

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