{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T02:51:34Z","timestamp":1785898294755,"version":"3.56.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All detected genetic mutations were pathogenic and affected the C\u2010terminal region at exon 9 of <jats:italic>ANKRD11.<\/jats:italic> One patient had 16q24.3 microdeletion including the <jats:italic>ANKRD11<\/jats:italic> gene. Mean age at onset was 67\u2009months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15\u2009days and 6\u2009years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self\u2010limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work\u2010up of patients with KBG syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Some of the epilepsy types of KBG syndrome appear to be self\u2010remitting.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>The epilepsy phenotypes associated with KBG syndrome are quite variable.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15428","type":"journal-article","created":{"date-parts":[[2022,10,5]],"date-time":"2022-10-05T04:25:07Z","timestamp":1664943907000},"page":"712-720","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Epilepsy in <scp>KBG<\/scp> syndrome"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0265-8933","authenticated-orcid":false,"given":"Marina","family":"Auconi","sequence":"first","affiliation":[{"name":"Child Neurology Unit, Systems Medicine Department Tor Vergata University Hospital of Rome  Rome Italy"},{"name":"Child Neurology Unit, Department of Neuroscience Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Serino","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Department Royal Aberdeen Children's Hospital  Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital and Research Institute  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Conti","sequence":"additional","affiliation":[{"name":"Child Neurology Unit, Department of Neuroscience Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7513-0051","authenticated-orcid":false,"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Fusco","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Bambino Ges\u00f9 Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-50"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31597"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30292"},{"issue":"5","key":"e_1_2_7_5_1","first-page":"7","article-title":"The KBG syndrome\u2010a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann J","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12553"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-014-0413-9"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.12.017"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37878"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37842"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61524"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0745-7"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.11.003"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32113"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13670"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2017.12.001"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0736-8"}],"container-title":["Developmental Medicine &amp; 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