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Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice
Ariadna Amador1, Christopher D Bostick1, Heather Olson2,3
1Institute for Genomic Medicine, Columbia University, New York, NY, USA.
Brain : a Journal of Neurology
|June 25, 2020
Summary
A GRIN2A gene variant causes severe neurodevelopmental disorders. Mouse models revealed altered brain function and seizures, with NMDA receptor antagonists showing limited therapeutic effects.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- NMDA receptors are vital for brain function.
- GRIN2A gene variants are linked to neurodevelopmental disorders, including developmental and epileptic encephalopathy.
- A specific de novo variant (p.Ser644Gly) was identified in a patient.
