The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

@inproceedings{Weldon2018TheFI,
  title={The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators},
  author={Monica Weldon and Murat Kilinc and J. Lloyd Holder and Gavin Rumbaugh},
  booktitle={Journal of Neurodevelopmental Disorders},
  year={2018}
}
BackgroundPathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities.Main bodyA meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain… CONTINUE READING
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SHOWING 1-10 OF 41 REFERENCES

A model for regulation by SynGAP-alpha1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density

  • WG Walkup
  • Elife. ;5
  • 2016
1 Excerpt