{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T15:11:48Z","timestamp":1784214708131,"version":"3.55.0"},"reference-count":29,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2017]]},"abstract":"<b><i>Background:<\/i><\/b> Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm<b> <\/b>of the workup and management of neonatal seizures. <b><i>Objective:<\/i><\/b> To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. <b><i>Subjects and Methods:<\/i><\/b> In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with <i>KCNQ2<\/i> mutations are reported. <b><i>Results:<\/i><\/b> Refractory seizures occurred in the early neonatal period with similar seizure type, including tonic features, apnea, and desaturation. A distinct aEEG seizure pattern, consisting of a sudden rise of the lower and upper margin of the aEEG, followed by a marked depression of the aEEG amplitude, was found in 8 of the 9 patients. Prompt recognition of this pattern led to early treatment with carbamazepine in the 2 most recent cases. <b><i>Conclusion:<\/i><\/b> Early recognition of the electroclinical phenotype by using aEEG may direct genetic testing and a precision medicine approach with sodium channel blockers in neonates with <i>KCNQ2<\/i> mutations.<\/jats:p>","DOI":"10.1159\/000478651","type":"journal-article","created":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T21:02:17Z","timestamp":1505854937000},"page":"387-393","source":"Crossref","is-referenced-by-count":47,"title":["A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with <b><i>KCNQ2<\/i><\/b> Mutations"],"prefix":"10.1159","volume":"112","author":[{"given":"Ana","family":"Vilan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Mendes Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Weckhuysen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren C.","family":"Weeke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Brilstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda S.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Roberta","family":"Cilio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,9,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.086314"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2013.04.004"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2004.062745"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2013.05.008"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.11.002"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5349.403"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22644"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12200"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-80"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13596"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000060"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000435296.72400.a1"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12984"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12089"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2009.06.064"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0141782"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37152"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23149"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.104"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.03.035"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s40272-012-0005-1"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_460"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13286"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1177\/088307389601100506"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s004310100760"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2017.1253476"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12419"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2013.02.003"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-0136"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/478651","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/478651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:37:53Z","timestamp":1745426273000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000478651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":29,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000478651","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"value":"1661-7800","type":"print"},{"value":"1661-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}