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Article

Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit

29 May 2017

Abstract excerpt

Genetic variants of the glutamate activated NMDA receptor (NMDAR) subunit GluN2A are associated with the hyperexcitable states manifested by epileptic seizures and interictal discharges in patients with disorders of the epilepsy-aphasia spectrum. The variants found in sporadic cases and families are of different types and include microdeletions encompassing the corresponding GRIN2A gene as well as nonsense,...

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PMID: 28611597
DOI: 10.3389/fncel.2017.00155

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