Epileptic Disorders
MENUClinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy Volume 21, issue 3, June 2019
TEST YOURSELF
(1) When is CDKL5-related encephalopathy suspected?
(2) The natural history of epilepsy in patients with CDKL5 disorder is characterized by “honeymoon periods”; what does “honeymoon period” mean?
(3) Does the electroclinical phenotype affect psychomotor development in this group of patients?
Answers
(1) The diagnosis is suspected based on normal prenatal history, early-onset epilepsy, stereotypical hand movements, severely impaired psychomotor development, and hypotonia, and then confirmed by detecting heterozygous CDKL5 gene mutations.
(2) The "honeymoon period” is defined as a seizure-free period longer than two months.
(3) No, in the three patients described by the authors, all subjects presented with severe developmental delay, apparently not related to epileptic features.