{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:44:58Z","timestamp":1773787498080,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,20]],"date-time":"2025-07-20T00:00:00Z","timestamp":1752969600000},"content-version":"vor","delay-in-days":200,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"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":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Landau\u2013Kleffner syndrome is a rare age\u2010related childhood epileptic syndrome of linguistic decline and neuropsychological abnormalities as main clinical symptoms. It is a functional language disorder of children, manifesting with auditory verbal agnosia and other predominantly linguistic deficits. Also, cognitive and neurophysiological\u2013behavioural abnormalities might manifest. Clinical seizures have been reported in three\u2010quarters of children. Recent advances in genomic studies have provided important insights into the understanding of neurodevelopmental disorders such as autistic spectrum disorder, intellectual disability, and epilepsy. N\u2010methyl\u2010D\u2010aspartate receptors (NMDARs) are glutamate\u2010gated channels that are essential for synaptic transmission and plasticity in the central nervous system. Impaired NMDAR signaling due to genetic mutation causes a constellation of neurodevelopmental disorders that manifest as intellectual disability, epilepsy, and schizophrenia. A mutation in the GRIN gene which encodes NMDAR subunits can disrupt NMDAR function. In this article, we describe a 5\u2010year\u2010old boy who presented with aphasia and autistic\u2010 like behavior; during evaluation, subtle myoclonic jerks were noticed. Electroencephalogram revealed a hypsarrhythmia\u2010like pattern, and following treatment with antiepileptic medications, he showed remarkable improvement in speech with better seizure control. Comprehensive genomic testing identified a heterozygous pathogenic variant in the GRIN2A gene. It is fundamental to maintain an awareness of the possible etiology of different epilepsy syndromes. Further description of this condition is detailed in this article.<\/jats:p>","DOI":"10.1155\/crpe\/8869587","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T03:34:12Z","timestamp":1753068852000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Landau\u2013Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation"],"prefix":"10.1155","volume":"2025","author":[{"given":"Ayman Khalil","family":"Ebrahim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6797-2684","authenticated-orcid":false,"given":"Jaafar Jawad","family":"Makhlooq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam Yusuf","family":"Busehail","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,20]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-015-0554-0"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.04.012"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2727"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/neurolint13020018"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy304"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2021.720984"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.39"},{"key":"e_1_2_8_8_2","volume-title":"Study of GRIN2A Mutation in Epilepsy-Aphasia Spectrum Disorders","author":"Qian P.","year":"2018"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2726"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8869587","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crpe\/8869587","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8869587","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T19:05:53Z","timestamp":1773774353000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crpe\/8869587"}},"subtitle":[],"editor":[{"given":"Maria","family":"Moschovi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crpe\/8869587"],"URL":"https:\/\/doi.org\/10.1155\/crpe\/8869587","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-08-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8869587"}}