IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission

Mutations in the IQSEC2 gene are associated with drug-resistant, multifocal infantile and childhood epilepsy; autism; and severe intellectual disability (ID). We used induced pluripotent stem cell (iPSC) technology to obtain hippocampal neurons to investigate the neuropathology of IQSEC2-mediated di...

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Detalles Bibliográficos
Autores principales: Brant, Boris, Stern, Tchelet, Shekhidem, Huda Adwan, Mizrahi, Liron, Rosh, Idan, Stern, Yam, Ofer, Polina, Asleh, Ayat, Umanah, George K. Essien, Jada, Reem, Levy, Nina S., Levy, Andrew P., Stern, Shani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8873005/
https://www.ncbi.nlm.nih.gov/pubmed/34535765
http://dx.doi.org/10.1038/s41380-021-01281-0

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