CDKL5 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...

Full description

Saved in:
Bibliographic Details
Published in:CNS drugs 2022-06, Vol.36 (6), p.591-604
Main Authors: Hong, William, Haviland, Isabel, Pestana-Knight, Elia, Weisenberg, Judith L., Demarest, Scott, Marsh, Eric D., Olson, Heather E.
Format: Article
Language:English
Subjects:
Anesthesia
Caregivers
Clinical trials
Cognitive ability
Convulsions & seizures
Cyclin-dependent kinase
Cyclin-dependent kinases
Deficiency diseases
Disease
Electroencephalography
Encephalopathy
Epilepsy
Epilepsy - etiology
Epilepsy - genetics
Epileptic Syndromes
Gene therapy
High fat diet
Humans
Ketogenesis
Low carbohydrate diet
Medicine
Medicine & Public Health
Neurology
Neurosciences
Pharmacotherapy
Protein Serine-Threonine Kinases
Psychiatry
Psychopharmacology
Quality of Life
Review Article
Seizures
Spasm
Spasms, Infantile - drug therapy
Spasms, Infantile - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 treating refractory seizures in CDD, we recommend carefully balancing seizure control and treatment-related side effects to optimize each individual’s overall quality of life. Clinical trials of medications targeting epilepsy in CDD have been conducted, and additional investigational small molecules, gene therapy, and other disease-modifying therapies are in development for CDD.
ISSN:1172-7047
1179-1934
DOI:10.1007/s40263-022-00921-5