Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations
Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Gad Vatine, Tali Grain-Shkolnik, Shani Stern · FENS Forum 2024
Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of genetic variants were reported to be highly penetrant and causative of ASD. Many of these mutations cause comorbidities such as epilepsy and intellectual disabilities (ID). In this study, we measured cortical neurons derived from induced pluripotent stem cells (iPSCs) of patients with four mutations in the genes GRIN2B, SHANK3, UBTF, as well as chromosomal duplication in the 7q11.23 region and compared them to neurons derived from
ePoster · Neuroscience