{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:50:52Z","timestamp":1773010252656,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Alterations in genes involved in glutamatergic neurotransmission are associated with developmental and epileptic encephalopathies (DEE). One of the most extensively studied pathways involves N\u2010methyl\u2010D\u2010aspartate receptors (NMDAR), which play a key role in brain development, synaptic plasticity, learning and memory. We present the case of an 11\u2010month\u2010old boy with DEE who began at 2\u2009months of age with afebrile focal\u2010to\u2010generalized tonic seizures and focal activity on electroencephalography (EEG). The patient showed developmental delay, resistance to antiseizure medications and frequent, multiple seizure types\u2014including motor focal seizures, epileptic spasms with and without hypsarrhythmia and generalized seizures\u2014together with abnormal movements and EEG findings consistent with epileptic encephalopathy. Whole\u2010exome sequencing identified a de novo likely pathogenic variant in the\n                    <jats:italic>GRIN2D<\/jats:italic>\n                    gene, affecting one of the transmembrane domains (M3), which is essential for normal NMDAR function and harbours most of the pathogenic variants reported to date. Our case represents the 14th documented case in the literature to date of a patient with\n                    <jats:italic>GRIN2D<\/jats:italic>\n                    \u2010related DEE, contributing to the phenotypic characterization of this entity.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70108","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T05:13:50Z","timestamp":1770873230000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>GRIN2D<\/i>\n                    \u2010Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5785-9020","authenticated-orcid":false,"given":"L.\u00a0R.","family":"Obreg\u00f3n\u00a0G\u00f3mez","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8840-0775","authenticated-orcid":false,"given":"M.","family":"Juanes","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0207-9552","authenticated-orcid":false,"given":"M.\u00a0S.","family":"Touzon","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6022-3480","authenticated-orcid":false,"given":"A.","family":"Romero","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital M\u00e9dico Churruca Visca  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6413-8440","authenticated-orcid":false,"given":"L.","family":"Maenza","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital M\u00e9dico Churruca Visca  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Borgani","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5527-3901","authenticated-orcid":false,"given":"C.","family":"Alonso","sequence":"additional","affiliation":[{"name":"Genomics Unit Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3849-4758","authenticated-orcid":false,"given":"G.","family":"Reyes","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. Garrahan  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0259-1046","authenticated-orcid":false,"given":"R.","family":"Caraballo","sequence":"additional","affiliation":[{"name":"Department of Neurology Hospital de Pediatr\u00eda Prof. Dr. Juan P. 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