biostudies-literatureHong WNational Institute of Neurological Disorders and StrokeNICHD NIH HHSPhilanthropic donationNINDS NIH HHS591-604https://www.ebi.ac.uk/biostudies/studies/S-EPMC9876658biostudies-literatureUnknown36(6)Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals with CDD develop refractory epilepsy with multiple seizure types. Management of seizures in CDD remains challenging for clinicians given the highly refractory nature of seizures and the limited number of disease-specific studies that offer a high level of evidence. Epileptic spasms are the most common seizure type in CDD and are more often refractory to standard first-line treatment than are spasms of other etiologies. In other seizure types, the effectiveness of antiseizure medications is limited and wanes over time. Ketogenic diet and palliative surgical treatments have both had mixed results in observational studies. When treatiCNS drugsCDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.PMC9876658K23 NS107646-04K23 NS107646U01 NS114312P50 HD105351Demarest SOlson HEWeisenberg JLHaviland IPestana-Knight EHong WMarsh EDfalseCDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals with CDD develop refractory epilepsy with multiple seizure types. Management of seizures in CDD remains challenging for clinicians given the highly refractory nature of seizures and the limited number of disease-specific studies that offer a high level of evidence. Epileptic spasms are the most common seizure type in CDD and are more often refractory to standard first-line treatment than are spasms of other etiologies. In other seizure types, the effectiveness of antiseizure medications is limited and wanes over time. Ketogenic diet and palliative surgical treatments have both had mixed results in observational studies. When treati2022-01-01T00:00:00Z2022 Jun2025-04-22T04:50:38.255Z2025-04-05T21:08:40.342ZS-EPMC98766583563348610.1007/s40263-022-00921-5