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Article

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2026

Obregón Gómez L R, Juanes M, Touzon M S, Romero A, Maenza L, Borgani K, Alonso C, Reyes G, Caraballo R

Abstract excerpt

Alterations in genes involved in glutamatergic neurotransmission are associated with developmental and epileptic encephalopathies (DEE). One of the most extensively studied pathways involves N-methyl-D-aspartate receptors (NMDAR), which play a key role in brain development, synaptic plasticity, learning and memory. We present the case of an 11-month-old boy with DEE who began at 2 months of age with afebrile...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41673952
DOI: 10.1002/jdn.70108

Genes

GRIN2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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