CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S.
Leonard H, et al.
Lancet Neurol. 2022 Jun;21(6):563-576. doi: 10.1016/S1474-4422(22)00035-7. Epub 2022 Apr 25.
Lancet Neurol. 2022.
PMID: 35483386
Free PMC article.
Review.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are …
Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental …