{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T08:29:51Z","timestamp":1766219391521,"version":"3.48.0"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n \n To describe the clinical presentation and response to medication in two cases of self-limiting\n KCNQ2<\/jats:italic>\n -related epilepsy.\n <\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n \n Both infants were born at term and had tonic seizures during the first two weeks after birth. The first infant had frequent seizures at presentation requiring two weeks of hospital stay. The second infant was born three months later and was only briefly admitted to hospital. The first infant was conceived by sperm for\n in\u00a0vitro<\/jats:italic>\n fertilization donated by the second case\u2019s father. Trio genome sequencing in case one successfully identified a pathogenic\n KCNQ2<\/jats:italic>\n variant in the proband, which was also confirmed in the proband for case 2 by targeted Sanger sequencing. The second case\u2019s father was an asymptomatic carrier of the pathogenic variant. Both infants responded to Carbamazepine. At more than six months of age, they are currently seizure free and developmentally normal.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Self-limited epilepsies with onset in neonates (SeLNE) are usually autosomal dominant disorders characterized by the neonatal onset of focal motor seizures and the absence of neurodevelopmental complications.\n KCNQ2<\/jats:italic>\n , encoding a voltage-gated potassium channel subunit, K\n V<\/jats:sub>\n 7.2, is the most common gene associated with SeLNE. Careful history taking and a genetic diagnosis can help to make the correct therapeutic choices.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/crpm-2024-0039","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T16:52:17Z","timestamp":1748623937000},"source":"Crossref","is-referenced-by-count":0,"title":["KCNQ2<\/i>\n variants in neonatal onset of self-limiting epilepsy"],"prefix":"10.1515","volume":"14","author":[{"given":"Shruthi","family":"Mundasad","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology , King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony R.","family":"Hart","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology , King\u2019s College Hospital NHS Foundation Trust , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah K.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory , Royal Devon University Healthcare NHS Foundation Trust , Exeter , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8672-5349","authenticated-orcid":false,"given":"Anne","family":"Greenough","sequence":"additional","affiliation":[{"name":"Department of Women and Children\u2019s Health , School of Life Course Sciences, Faculty of Life Sciences and Medicine, Neonatal Intensive Care Centre, King\u2019s College Hospital, King\u2019s College London , London , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"key":"2025122008251825317_j_crpm-2024-0039_ref_001","doi-asserted-by":"crossref","unstructured":"Cornet, M-C, Morabito, V, Lederer, D, Glass, HC, Santos, SF, Numis, AL, et al..\u00a0Neonatal presentation of genetic epilepsies: early differentiation\u00a0from\u00a0acute provoked seizures. Epilepsia 2021;62:1907\u201320. https:\/\/doi.org\/10.1111\/epi.16957.","DOI":"10.1111\/epi.16957"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_002","doi-asserted-by":"crossref","unstructured":"Millevert, C, Weckhuysen, S, ILAE Genetics Commission. ILAE Genetic Literacy Series: self-limited familial epilepsy syndromes with onset in neonatal age and infancy. Epileptic Disord 2023;25:445\u201353. https:\/\/doi.org\/10.1002\/epd2.20026.","DOI":"10.1002\/epd2.20026"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_003","unstructured":"Miceli, F, Soldovieri, MV, Weckhuysen, S, Cooper, E, Taglialatela, M. KCNQ2-related disorders. Updated 2022 May 19. In: GeneReviews [Internet]. Seattle (WA): University of Washington."},{"key":"2025122008251825317_j_crpm-2024-0039_ref_004","doi-asserted-by":"crossref","unstructured":"Trollman, R. Neuromonitoring in neonatal-onset epileptic encephalopathies. Front Neurol 2021;12:623625. https:\/\/doi.org\/10.3389\/fneur.2021.623625.","DOI":"10.3389\/fneur.2021.623625"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_005","doi-asserted-by":"crossref","unstructured":"Ronit, M, Pressler, RM, Abend, NS, Auvin, S, Boylan, G, Brigo, F, et al.. Treatment of seizures in the neonate: guidelines and consensus-based recommendations-special report from the ILAE task force on neonatal seizures. Epilepsia 2023;64:2550\u201370. https:\/\/doi.org\/10.1111\/epi.17745.","DOI":"10.1111\/epi.17745"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_006","doi-asserted-by":"crossref","unstructured":"Robinson, HK, Stals, K, Hill, S, Parrish, A, Baple, EL. Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting. Lancet Neurol 2024;23:139\u201340. https:\/\/doi.org\/10.1016\/s1474-4422(23)00429-5.","DOI":"10.1016\/S1474-4422(23)00429-5"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_007","doi-asserted-by":"crossref","unstructured":"Chen, S, Francioli, LC, Goodrich, JK, Collins, RL, Kanai, M, Wang, Q, et al.. A genomic mutational constraint map using variation in 76,156 human genomes. Nature 2024;625:92\u2013100. https:\/\/doi.org\/10.1038\/s41586-023-06045-0.","DOI":"10.1038\/s41586-023-06045-0"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_008","doi-asserted-by":"crossref","unstructured":"Richards, S, Aziz, N, Bale, S, Bick, D, Das, S, Gastier-Foster, J, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","DOI":"10.1038\/gim.2015.30"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_009","unstructured":"Durkie, M, Cassidy, E-J, Berry, I, Owens, M, Turnbull, C, Scott, RH, et al.. ACGS best practice guidelines for variant classification in rare disease 2024. UK: Association for Clinical Genomic Science; 2024. Available from: https:\/\/www.acgs.uk.com\/media\/12533\/uk-practice-guidelines-for-variant-classification-v12-2024.pdf."},{"key":"2025122008251825317_j_crpm-2024-0039_ref_010","doi-asserted-by":"crossref","unstructured":"Cooper, EC, Aldape, KD, Abosch, A, Barbaro, NM, Berger, MS, Peacock, WS, et al.. Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci U S A 2000;97:4914\u20139. https:\/\/doi.org\/10.1073\/pnas.090092797.","DOI":"10.1073\/pnas.090092797"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_011","doi-asserted-by":"crossref","unstructured":"Tinel, N, Lauritzen, I, Chouabe, C, Lazdunski, M, Borsotto, M. The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett 1998;438:171\u20136. https:\/\/doi.org\/10.1016\/s0014-5793(98)01296-4.","DOI":"10.1016\/S0014-5793(98)01296-4"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_012","doi-asserted-by":"crossref","unstructured":"Pisano, T, Numis, AL, Heavin, SB, Weckhuysen, S, Angriman, M, Suls, A, et al.. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia 2015;56:685\u201391. https:\/\/doi.org\/10.1111\/epi.12984.","DOI":"10.1111\/epi.12984"},{"key":"2025122008251825317_j_crpm-2024-0039_ref_013","doi-asserted-by":"crossref","unstructured":"Grinton, BE, Heron, SE, Pelekanos, JT, Zuberi, SM, Kivity, S, Afawi, Z, et al.. Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. 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