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Article

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

30 Jul 2019

Abstract excerpt

N-methyl d-aspartate receptors are ligand-gated ionotropic receptors mediating a slow, calcium-permeable component of excitatory synaptic transmission in the CNS. Variants in genes encoding NMDAR subunits have been associated with a spectrum of neurodevelopmental disorders. Here we report six novel GRIN2D variants and one previously-described disease-associated GRIN2D variant in two patients with developmental...

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PMID: 31504254
DOI: 10.1093/brain/awz232

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