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Genetic variants in the GRIN genes that encode N‐methyl‐D‐aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with… Click to show full abstract
Genetic variants in the GRIN genes that encode N‐methyl‐D‐aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with early‐onset epileptic encephalopathy, evaluated functional changes to NMDAR properties caused by the variant, and screened FDA‐approved therapeutic compounds as potential treatments for the patient.
Keywords:
related grin1;
recurrent seizure;
variant molecular;
seizure related;
molecular mechanism;
grin1 variant
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2021
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!