{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T07:06:29Z","timestamp":1751612789957,"version":"3.28.0"},"reference-count":33,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Carbamazepine (CBZ) is effective in treating KCNQ2\/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern.<\/jats:p><jats:p>\n          Objective\u2003To assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2\/3 variants has enabled early and effective targeted therapy with CBZ.<\/jats:p><jats:p>\n          Methods\u2003Retrospective descriptive study of five neonates with KCNQ2\/3 pathogenic gene variants admitted at a level 3 neonatal intensive care unit (NICU) over an 8-year period.<\/jats:p><jats:p>\n          Results\u2003The distinctive ictal aEEG pattern was recognized in four neonates after an average of 61.5\u2009hours (minimum 12\u2009hours, maximum 120\u2009hours) from the first electroclinical seizure and prompted the use of CBZ that was effective in all. The two most recently diagnosed patients could avoid polytherapy as they received CBZ as the first and second antiseizure medication, respectively. Three out of five patients with continuous normal voltage (CNV), sleep\u2013wake cycling (SWC), and shorter postictal suppression had normal neurodevelopmental outcome. Regarding the remaining two infants, one was not trialed with CBZ and had a high seizure burden, both presented with a prolonged postictal suppression, no SWC, and had moderate-to-severe developmental delay. Genetic results became available after the neonatal period in all but one of the infants, who had a prenatal diagnosis.<\/jats:p><jats:p>\n          Conclusion\u2003Recognition of the distinctive ictal aEEG pattern in the NICU allowed early and effective targeted therapy with CBZ in four neonates, well before genetic results became available. Furthermore, a CNV background pattern with SWC and short postictal suppression were associated with normal developmental outcomes.<\/jats:p>","DOI":"10.1055\/a-2190-9521","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T23:37:50Z","timestamp":1697153870000},"page":"032-041","source":"Crossref","is-referenced-by-count":1,"title":["Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series"],"prefix":"10.1055","volume":"55","author":[{"given":"Ana","family":"Vilan","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Centro Hospitalar S\u00e3o Jo\u00e3o, Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[{"name":"Department of Genetics, Centro Hospitalar S\u00e3o Jo\u00e3o, Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"given":"Jos\u00e9 Mendes","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Neurophysiology, Department of Neurology, Centro Hospitalar Vila Nova de Gaia e Espinho, Porto, Portugal"}]},{"given":"Maria Roberta","family":"Cilio","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Catholic University of Louvain, Brussels, Belgium"}]},{"given":"Linda S.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Leiden University Medical Center, Leiden, The Netherlands"}]}],"member":"194","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/B978-0-444-64029-1.00020-5","article-title":"Genetics of neonatal-onset epilepsies","volume":"162","author":"M C Cornet","year":"2019","journal-title":"Handb Clin Neurol"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/epi.16815","article-title":"The ILAE classification of seizures and the epilepsies: modification for seizures in the neonate. 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