{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T17:52:11Z","timestamp":1755798731499,"version":"3.44.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T00:00:00Z","timestamp":1732060800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the Child Neurology Society"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>A newborn with <jats:italic>GRIN1<\/jats:italic>\u2010related early infantile developmental and epileptic encephalopathy (DEE) with striking pharmacoresistance is described with emphasis on potential therapy with memantine and vigabatrin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The term neonate manifested electrographic and electroclinical seizures from the first day of life with focal tonic seizures with apnea, bradycardia, and desaturations and later developed epileptic spasms and a hyperkinetic movement disorder. Multiple antiseizure medication trials were unsuccessful. Brain magnetic resonance imaging\u00a0displayed extensive malformations of cortical development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing demonstrated a de novo novel <jats:italic>GRIN1<\/jats:italic> variant (1916T\u2009&gt;\u2009G,p.Phe639Cys), which can be associated with NMDA receptor dysfunction. Gain\u2010of\u2010function mutation was suspected based on phenotype correlation. Seizures markedly improved after initiation of memantine, an NMDA\u2010receptor antagonist. Memantine was complemented by the concurrent use of vigabatrin, initiated\u00a04 days earlier due to emergence of epileptic spasms. Significant reduction in seizures facilitated discharge from neonatal intensive care unit.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:italic>GRIN1<\/jats:italic>\u2010related disorders occur due to NMDA receptor dysfunction. Patients with gain\u2010of\u2010function <jats:italic>GRIN1<\/jats:italic> mutations who present with the phenotype of DEE with extensive bilateral polymicrogyria may benefit from a trial of NMDA\u2010receptor antagonist therapy and vigabatrin. Further research is warranted to better understand this markedly pharmacoresistant condition and to investigate targeted therapies in <jats:italic>GRIN1<\/jats:italic> DEE.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cns3.20088","type":"journal-article","created":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T04:38:14Z","timestamp":1732077494000},"page":"299-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>GRIN1<\/i>\u2010related epilepsy in a neonate with response to memantine and vigabatrin"],"prefix":"10.1002","volume":"2","author":[{"given":"Isabella","family":"Eiler","sequence":"first","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin Milwaukee Wisconsin USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope M.","family":"Reecher","sequence":"additional","affiliation":[{"name":"Department of Neurology, Division of Child Neurology Medical College of 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