Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.

ABSTRACT:

Objective

N-methyl-D-aspartate receptors are glutamate-gated ion channels that play a crucial role in brain function. Numerous inherited or de novo variants in the GRIN2A gene, encoding the GluN2A subunit of the receptor, have been identified in patients with epilepsy. In addition, it is worth noting that GRIN2A variants exhibit a strong correlation with epilepsy-aphasia syndromes, a group of age-dependent epileptic, cognitive, and language disorders with a characteristic electroencephalographic pattern.

Methods

Whole exome sequencing was conducted in enrolled patients with epilepsy-aphasia syndromes, and GRIN2A variants were screened. The conservation of substituted residues, conformational changes of mutant subunits, and in silico predictions of pathogenicity were thorough

SUBMITTER: Zhang L 

PROVIDER: S-EPMC11633710 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature