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What is GRIN2A Disorders: Genotype-Phenotype Link about?

This study analyzed 248 individuals with pathogenic or likely pathogenic variants in the GRIN2A gene. The phenotypic spectrum ranged from normal development with mild epilepsy and speech delay to severe developmental and epileptic encephalopathy. Pathogenic missense variants in transmembrane and linker domains were associated with more severe developmental phenotypes, whereas missense variants in amino terminal or ligand-binding domains and null variants led to less severe phenotypes. Electrophysiology data

Author

cicasmile

Language

EN