Publications:

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: 3576_3580del

PubMed Link: 35359577

Variant Present in the following documents:

• Main text
• fnmol-15-810081.pdf

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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: 3576_3580delTCAAA; I1194CfsX21

PubMed Link: 29141279

Variant Present in the following documents:

• Main text
• jcn-14-22.pdf

View BVdb publication page