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We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequency of seizure\u2010free periods and cortical visual impairment (CVI), (3) correlate these features with genotype and gender, and (4) correlate these features with developmental milestones.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a cohort study of patients with CDD. Phenotypic features were explored and correlated with gene variant grouping and gender. A developmental score was created based on achieving seven primary milestones. Phenotypic variables were correlated with the developmental score to explore markers of better developmental outcomes. Multivariate linear regression was used to account for age at last visit.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ninety\u2010two patients with CDD were seen during the enrollment period. Eighteen were male (19%); median age at last visit was 5\u00a0years (interquartile range = 2.0\u201011.0). Eighty\u2010one percent of patients developed epileptic spasms, but only 47% of those also had hypsarrhythmia. Previously described hypermotor\u2010tonic\u2010spasms sequence was seen in only 24% of patients, but 56% of patients had seizures with multiple phases (often tonic and spasms). Forty\u2010three percent of patients experienced a seizure\u2010free period ranging from 1 to &gt;12\u00a0months, but only 6% were still seizure\u2010free at the last visit. CVI was present in 75% of all CDD patients. None of these features was associated with genotype group or gender. CVI was correlated with reduced milestone achievement after adjusting for age at last visit and a history of hypsarrhythmia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>The most common seizure types in CDD are epileptic spasms (often without hypsarrhythmia) and tonic seizures that may cluster together. CVI is a common feature in CDD and is correlated with achieving fewer milestones.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.16285","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T07:38:17Z","timestamp":1563349097000},"page":"1733-1742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":155,"title":["CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4544-3724","authenticated-orcid":false,"given":"Scott T.","family":"Demarest","sequence":"first","affiliation":[{"name":"Children's Hospital Colorado Aurora Colorado"},{"name":"Adult and Child Consortium for Health Outcomes Research and Delivery Science Aurora Colorado"},{"name":"University of Colorado School of Medicine Aurora Colorado"},{"name":"Department of Pediatrics Colorado School of Public 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