Associated Papers
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.
Zayat V et al.
Cells, 2022
Ameliorating Effect of Umbilical Cord Mesenchymal Stem Cells in a Human Induced Pluripotent Stem Cell Model of Dravet Syndrome.
Zhao H et al.
Molecular Neurobiology, 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
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
A heterozygous SCN1A (c.A5768G/+) mutant human induced pluripotent stem cell line (USTCi002-A) generated using TALEN-mediated precise gene editing.
Zhao H et al.
Stem Cell Research, 2020
Generation of corrected-hiPSC (USTCi001-A-1) from epilepsy patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Zhao H et al.
Stem Cell Research, 2020
Stem cells: A path towards improved epilepsy therapies.
Lybrand ZR et al.
Neuropharmacology, 2020
Generation of iPSC line (USTCi001-A) from human skin fibroblasts of a patient with epilepsy.
Zhao H et al.
Stem Cell Research, 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
Induced pluripotent stem cells for neural drug discovery.
Farkhondeh A et al.
Drug Discovery Today, 2019
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
Nissenkorn A et al.
Plos One, 2019
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
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.
Liu J et al.
Translational Psychiatry, 2016
Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells.
Tidball AM et al.
Stem Cells (dayton, Ohio), 2016
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique.
Chen W et al.
Scientific Reports, 2014
Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
Jiao J et al.
Human Molecular Genetics, 2013
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0