Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Frega et al. show that mutations in functionally distinct genes leading to Kleefstra syndrome converge at the molecular, cellular, and neuronal network levels. KSS gene deficiency leads to hyperactive neuronal network communication and altered excitatory-inhibitory balance. Common biological pathways related to ion-channel expression and synaptic communication underlie this functional convergence.

Original languageEnglish
Pages (from-to)173-186.e6
JournalCell reports
Issue number1
Publication statusPublished - 7 Jan 2020
Externally publishedYes



  • autism
  • EHMT1
  • intellectual disability
  • Kleefstra syndrome spectrum
  • micro-electrode arrays
  • neurodevelopmental disorder
  • neuronal networks

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