{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Daniels C"],"funding":["National Institute of Neurological Disorders and Stroke","NICHD NIH HHS","NINDS NIH HHS"],"pagination":["456-468"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10922313"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["66(4)"],"pubmed_abstract":["<h4>Aim</h4>To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile-onset epilepsies.<h4>Method</h4>We performed a retrospective cohort study and ascertained individuals with CDD and comparison individuals with infantile-onset epilepsy who had epilepsy gene panel testing. We reviewed records, updated variant classifications, and compared phenotypic features. Wilcoxon rank-sum tests and χ<sup>2</sup> or Fisher's exact tests were performed for between-cohort comparisons.<h4>Results</h4>We identified 137 individuals with CDD (110 females, 80.3%; median age at last follow-up 3 year 11 months) and 313 individuals with infantile-onset epilepsies (156 females, 49.8%; median age at last follow-up 5 years 2 months; 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-resistant 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-Gastaut 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%).<h4>Interpretation</h4>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-resistant 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."],"journal":["Developmental medicine and child neurology"],"pubmed_title":["CDKL5 deficiency disorder and other infantile-onset genetic epilepsies."],"pmcid":["PMC10922313"],"funding_grant_id":["K23 NS107646-05","K23 NS107646","P50 HD105351","U01 NS114312","K23 NS107646‐05"],"pubmed_authors":["Benke TA","Haviland I","Lucash J","Moosa AN","Demarest S","El Achkar CM","Greene C","Kaufmann WE","Love-Nichols J","Zhang B","Olson HE","Fidell A","Nie DA","Pestana-Knight E","CDKL5 Study Group","Julich K","Lieberman DN","Witt RM","Daniels C","Smith L","Srivastava S","Poduri A","Drew J","Zhang X","Swanson L"],"additional_accession":[]},"is_claimable":false,"name":"CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.","description":"<h4>Aim</h4>To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile-onset epilepsies.<h4>Method</h4>We performed a retrospective cohort study and ascertained individuals with CDD and comparison individuals with infantile-onset epilepsy who had epilepsy gene panel testing. We reviewed records, updated variant classifications, and compared phenotypic features. Wilcoxon rank-sum tests and χ<sup>2</sup> or Fisher's exact tests were performed for between-cohort comparisons.<h4>Results</h4>We identified 137 individuals with CDD (110 females, 80.3%; median age at last follow-up 3 year 11 months) and 313 individuals with infantile-onset epilepsies (156 females, 49.8%; median age at last follow-up 5 years 2 months; 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-resistant 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-Gastaut 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%).<h4>Interpretation</h4>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-resistant 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.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-06-01T06:11:54.173Z","creation":"2025-07-04T03:05:47.87Z"},"accession":"S-EPMC10922313","cross_references":{"pubmed":["37771170"],"doi":["10.1111/dmcn.15747"]}}