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Article

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.

Genes - 26 Jul 2022

Shah Abid Ali, Amjad Marryam, Hassan Jawad-Ul, Ullah Asmat, Mahmood Arif, Deng Huiyin, Ali Yasir, Gul Fouzia, Xia Kun

Abstract excerpt

The GluN2B subunit of N-methyl-D-aspartate receptors plays an important role in the physiology of different neurodevelopmental diseases. Genetic variations in the GluN2B coding gene (GRIN2B) have consistently been linked to West syndrome, intellectual impairment with focal epilepsy, developmental delay, macrocephaly, corticogenesis, brain plasticity, as well as infantile spasms and Lennox-Gastaut syndrome. It is...

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Identifiers

PMID: 35893069
DOI: 10.3390/genes13081332
PMCID: PMC9394290

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