{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T02:35:09Z","timestamp":1793932509093,"version":"4.8.0"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23 NS107646\u201005"],"award-info":[{"award-number":["K23 NS107646\u201005"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile\u2010onset epilepsies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We performed a retrospective cohort study and ascertained individuals with CDD and comparison individuals with infantile\u2010onset epilepsy who had epilepsy gene panel testing. We reviewed records, updated variant classifications, and compared phenotypic features. Wilcoxon rank\u2010sum tests and <jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup> or Fisher's exact tests were performed for between\u2010cohort comparisons.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 137 individuals with CDD (110 females, 80.3%; median age at last follow\u2010up 3\u2009year 11\u2009months) and 313 individuals with infantile\u2010onset epilepsies (156 females, 49.8%; median age at last follow\u2010up 5\u2009years 2\u2009months; 35% with genetic diagnosis). Features reported significantly more frequently in the CDD group than in the comparison cohort included developmental and epileptic encephalopathy (81% vs 66%), treatment\u2010resistant epilepsy (95% vs 71%), sequential seizures (46% vs 6%), epileptic spasms (66% vs 42%, with hypsarrhythmia in 30% vs 48%), regression (52% vs 29%), evolution to Lennox\u2013Gastaut syndrome (23% vs 5%), diffuse hypotonia (72% vs 36%), stereotypies (69% vs 11%), paroxysmal movement disorders (29% vs 17%), cerebral visual impairment (94% vs 28%), and failure to thrive (38% vs 22%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>CDD, compared with other suspected or confirmed genetic epilepsies presenting in the first year of life, is more often characterized by a combination of treatment\u2010resistant epilepsy, developmental and epileptic encephalopathy, sequential seizures, spasms without hypsarrhythmia, diffuse hypotonia, paroxysmal movement disorders, cerebral visual impairment, and failure to thrive. Defining core phenotypic characteristics will improve precision diagnosis and treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.15747","type":"journal-article","created":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T05:55:04Z","timestamp":1695966904000},"page":"456-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>CDKL5<\/scp> deficiency disorder and other infantile\u2010onset genetic epilepsies"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0602-5749","authenticated-orcid":false,"given":"Carolyn","family":"Daniels","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston MA 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 Boston MA USA"},{"name":"Department of Neurology Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5385-0119","authenticated-orcid":false,"given":"Heather E.","family":"Olson","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston MA USA"},{"name":"Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology Boston Children's Hospital  Boston MA USA"},{"name":"Department of Neurology Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CDKL5 Study 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