CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
CNS Drugs
; 36(6): 591-604, 2022 06.
Article
en En
| MEDLINE
| ID: mdl-35633486
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
/
Epilepsia
Tipo de estudio:
Etiology_studies
/
Observational_studies
Aspecto:
Patient_preference
Límite:
Humans
Idioma:
En
Revista:
CNS Drugs
Asunto de la revista:
FARMACOLOGIA
/
NEUROLOGIA
/
TERAPIA POR MEDICAMENTOS
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos