Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

@article{Kenny2014ExcessOR,
  title={Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders},
  author={Elaine Kenny and Paul Cormican and Sarah M. Furlong and Elizabeth Heron and Grace Kenny and Ciara Fahey and Eileen Kelleher and Sean Ennis and Daniela Tropea and Richard J. L. Anney and Aiden P. Corvin and Gary Donohoe and Louise Gallagher and Michael Gill and Derek W. Morris},
  journal={Molecular Psychiatry},
  year={2014},
  volume={19},
  pages={872-879}
}
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and Neuroligin Interacting Proteins, (2) Post-synaptic Glutamate Receptor Complexes, (3… CONTINUE READING
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Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control

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