{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T23:18:53Z","timestamp":1774999133243,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T00:00:00Z","timestamp":1563321600000},"content-version":"vor","delay-in-days":46,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Aims<\/jats:italic>. To further characterise <jats:italic>CDKL5<\/jats:italic>\u2010related disorder, previously classified as an early\u2010onset seizure variant of Rett syndrome, which is currently considered a specific and independent early\u2010infantile epileptic encephalopathy.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. We describe the epileptic phenotype and neurocognitive development in three girls with <jats:italic>CDKL5<\/jats:italic> mutations showing severe neurodevelopmental impairment, with different epileptic phenotypes and severity.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. The patients differed regarding age at epilepsy onset, seizure frequency, duration of \u201choneymoon periods\u201d, as well as EEG features. The \u201choneymoon period\u201d, defined as a seizure\u2010free period longer than two months, represented, in our case series, a good indicator of the epilepsy outcome, but not of the severity of developmental impairment. However, even during the \u201choneymoon period\u201d, the interictal EEG showed epileptiform abnormalities, slowing, or a disappearance of physiological pattern. The natural history of <jats:italic>CDKL5<\/jats:italic> disorder was compared between the three girls, focusing on the relationship between electroclinical features and neurological development.<\/jats:p><jats:p><jats:italic>Conclusion<\/jats:italic>. Our findings suggest that <jats:italic>CDKL5<\/jats:italic> mutations likely play a direct role in psychomotor development, whereas epilepsy is one of the clinical features associated with this complex disorder.<\/jats:p>","DOI":"10.1684\/epd.2019.1071","type":"journal-article","created":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T16:28:56Z","timestamp":1706027336000},"page":"271-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical evolution and epilepsy outcome in three patients with <i>CDKL5<\/i>\u2010related developmental encephalopathy"],"prefix":"10.1002","volume":"21","author":[{"given":"Pia","family":"Bernardo","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurosciences Santobono\u2010Pausilipon Children's Hospital Naples"},{"name":"Department of Translational Medical Sciences, Child and Adolescent Neuropsychiatry University of Naples Federico II Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Ferretti","sequence":"additional","affiliation":[{"name":"NESMOS Department, Sant\u2019 Andrea Hospital \u201cSapienza\u201d University of Rome Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetano","family":"Terrone","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences, Child and Adolescent Neuropsychiatry University of Naples Federico II Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Santoro","sequence":"additional","affiliation":[{"name":"Regional Referral Centre for Neurofibromatosis, Department of Woman, Child, General and Specialistic Surgery \u201cLuigi Vanvitelli\u201d University of Naples Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmela","family":"Bravaccio","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences, Child and Adolescent Neuropsychiatry University of Naples Federico II Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre Federico II University Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonietta","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre Federico II University Naples"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto \u201cG. Gaslini\u201d Genova"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.02.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01520.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14191"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.156"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-7-2"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003352"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03656.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13306"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.09.001"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2013.02.003"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/460256"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12419"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2019.1071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T11:23:02Z","timestamp":1725535382000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2019.1071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1684\/epd.2019.1071"],"URL":"https:\/\/doi.org\/10.1684\/epd.2019.1071","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6]]},"assertion":[{"value":"2018-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}