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Lecture "Genetic variation of the NMDA receptor – clinical spectrum, functional consequences and the long way to precision medicine"

The NMDA receptor is a heterotetrameric ion channel composed of two GluN1 (encoded by GRIN1) and typically two GluN2 subunits (encoded by GRIN2A-D). Pathogenic variants in any of these GRIN genes are associated with various neurodevelopmental disorders, such as developmental delay, intellectual disability, epilepsy, movement disorders and many more. There appears to be marked genotype-electrotype-phenotype correlations allowing for differentiating patient fractions, e.g. into carriers of gain-of-function or loss-of-function or null variants. Application of NMDA receptor blockers or agonists appear to be promising targeted treatment approaches in the respective individuals. However, some obstacles still needs to be overcome.

IPHYS contact person: Ladislav Vyklický,