Article
IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Molecular psychiatry - 1 Dec 2021
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
Abstract excerpt
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 disease. The neurons were characterized at three-time points during differentiation to assess developmental...
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