Ontology highlight
ABSTRACT:
SUBMITTER: Frega M
PROVIDER: S-EPMC6821803 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Nature communications 20191030 1
Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediate ...[more]