Abstract
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 language | English |
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Pages (from-to) | 173-186.e6 |
Journal | Cell reports |
Volume | 30 |
Issue number | 1 |
DOIs | |
Publication status | Published - 7 Jan 2020 |
Externally published | Yes |
Keywords
- autism
- EHMT1
- intellectual disability
- Kleefstra syndrome spectrum
- micro-electrode arrays
- neurodevelopmental disorder
- neuronal networks