{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:54:26Z","timestamp":1791190466984,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We describe the EEG findings of an infant with early\u2010onset epileptic encephalopathy with mutation of the <jats:italic>KCNQ2<\/jats:italic> gene and a family history of neonatal seizures. The infant presented with multifocal drug\u2010resistant seizures with onset during the third day of life. Family history was positive for early\u2010onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of <jats:italic>KCQN2<\/jats:italic> from both the mother and child revealed a heterozygous cytosine\u2010to\u2010guanine mutation (Dedek <jats:italic>et al.<\/jats:italic>, 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst\u2010suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low\u2010voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike\u2010wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks. [<jats:italic>Published with video sequences<\/jats:italic>]<\/jats:p>","DOI":"10.1684\/epd.2013.0578","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"158-165","source":"Crossref","is-referenced-by-count":27,"title":["Video\/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data"],"prefix":"10.1002","volume":"15","author":[{"given":"Domenico","family":"Serino","sequence":"first","affiliation":[{"name":"Neurology Division Ospedale Pediatrico Bambino Ges\u00f9 Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Neurology Division Ospedale Pediatrico Bambino Ges\u00f9 Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Pontrelli","sequence":"additional","affiliation":[{"name":"Neurology Division Ospedale Pediatrico Bambino Ges\u00f9 Rome"},{"name":"Amaducci Neurology Unit Department of Neuroscience University of Bari Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Neurology Division Ospedale Pediatrico Bambino Ges\u00f9 Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Fusco","sequence":"additional","affiliation":[{"name":"Neurology Division Ospedale Pediatrico Bambino Ges\u00f9 Rome"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5349.403"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000132979.08394.6D"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-53"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(03)00037-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051938"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.5698\/1535-7511-12.4.150"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2005.05.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-25"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2006.10.010"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22644"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2013.0578","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:19:03Z","timestamp":1710778743000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2013.0578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1684\/epd.2013.0578"],"URL":"https:\/\/doi.org\/10.1684\/epd.2013.0578","archive":["Portico"],"relation":{"cites":[{"id-type":"doi","id":"10.3390\/ijms19061584","asserted-by":"object"}]},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6]]}}}