{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:39:10Z","timestamp":1770989950531,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"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":["Epilepsia Open"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Heterozygous pathogenic variants in GATAD2B gene have been related to the <jats:italic>GATAD2B<\/jats:italic>\u2010associated neurodevelopmental disorders (GAND) characterized by neurodevelopmental delay with predominant language impairment, infantile hypotonia, macrocephaly, ophthalmological abnormalities, and dysmorphic facial features with nonspecific findings on brain magnetic resonance imaging (MRI). Occasionally, affected individuals exhibit drug responsive epilepsy, psychiatric disorders, and other extra\u2010neurological comorbidities. We report a patient carrying a de novo heterozygous missense variant in GATAD2B gene. She presents a developmental and epileptic encephalopathy (DEE) with drug\u2010resistant atypical absences. An extensive review of the literature did not show any similar phenotype. Our report broadens the electroclinical spectrum related to GATAD2B pathogenic variants and supports the inclusion of this monogenic etiology among the genetic causes of epilepsy with drug\u2010resistant atypical absences, a group with few known genetic etiologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>We describe a patient with drug\u2010resistant atypical absences caused by a pathogenic variant in the GATAD2B gene. Mutations in the GATAD2B gene should be considered among the rare monogenic causes of atypical absences.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.13133","type":"journal-article","created":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T13:05:16Z","timestamp":1740056716000},"page":"620-627","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>GATAD2B<\/scp>\u2010related developmental and epileptic encephalopathy (<scp>DEE<\/scp>): Extending the epilepsy phenotype and a literature appraisal"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7504-0540","authenticated-orcid":false,"given":"Giovanna","family":"Scorrano","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Reference Centre for Rare Epilepsies Necker Enfants Malades University Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6657-5040","authenticated-orcid":false,"given":"Giulia","family":"Barcia","sequence":"additional","affiliation":[{"name":"Department of Genetics Necker Enfants Malades University Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163 Imagine Institute  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Champ","sequence":"additional","affiliation":[{"name":"Laboratoire de Biologie M\u00e9dicale Multi\u2010Sites SeqOIA Assistance\u2010Publique  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Courtin","sequence":"additional","affiliation":[{"name":"Department of Genetics Necker Enfants Malades University Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Necker Enfants Malades Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3805-6651","authenticated-orcid":false,"given":"Anna","family":"Kaminska","sequence":"additional","affiliation":[{"name":"Clinical Neurophysiology Department Necker Enfants Malades University Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Chemaly","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Reference Centre for Rare Epilepsies Necker Enfants Malades University Hospital, AP\u2010HP, Universit\u00e9 Paris Cit\u00e9  Paris 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