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Article

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

Epilepsia open - 1 Dec 2024

Zhang Lu, Duan Yiran, Ma Rui, Han Jiaqi, Pan Na, Gao Lehong, Wang Yuping

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39474911
DOI: 10.1002/epi4.13057
PMCID: PMC11633710

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