JLE

Epileptic Disorders

MENU

Clinical 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?

 

 

 

 

 

 

See answers

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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.

 

 

 Back to questions