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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
Scott T Demarest1,2,3,4,5, Heather E Olson6, Angela Moss2
1Children's Hospital Colorado, Aurora, Colorado.
Epilepsia
|July 18, 2019
Summary
CDKL5 deficiency disorder (CDD) commonly causes epileptic spasms and tonic seizures. Cortical visual impairment (CVI) is frequent in CDD and linked to delayed developmental milestones.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- CDKL5 deficiency disorder (CDD) is a severe early-onset epileptic encephalopathy caused by mutations in the CDKL5 gene.
- Understanding the phenotypic spectrum of CDD is crucial for patient management and therapeutic development.
Purpose of the Study:
- To characterize seizure types and frequency of seizure-free periods in CDD patients.
- To assess the prevalence of cortical visual impairment (CVI) in CDD.
- To correlate these clinical features with genotype, gender, and developmental milestones.
Main Methods:
- A cohort study of 92 patients with CDD was conducted.
- Phenotypic data, including seizure types and CVI, were collected and analyzed.
- Developmental milestones were assessed, and correlations with clinical features, genotype, and gender were explored using multivariate regression.
Main Results:
- Epileptic spasms were common (81%), often without hypsarrhythmia. Tonic seizures were also frequent, with 56% experiencing multi-phase seizures.
- A seizure-free period was transient for most (43% experienced one, 6% remained seizure-free).
- Cortical visual impairment (CVI) affected 75% of patients and was correlated with reduced milestone achievement, independent of age and hypsarrhythmia history.
Conclusions:
- The most prevalent seizure types in CDD are epileptic spasms and tonic seizures, frequently occurring together.
- Cortical visual impairment (CVI) is a significant comorbidity in CDD, impacting developmental outcomes.
- No significant association was found between seizure types, CVI, and genotype or gender.
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