AI Article Synopsis
- Cabezas syndrome is a rare genetic disorder linked to mutations in the CUL4B gene, leading to various developmental and neurological challenges, and limited understanding of its associated epilepsy.
- The study investigates the seizure characteristics in a 17-year-old with a novel CUL4B variant and reviews existing literature to identify predictors of epilepsy related to different mutation types and brain imaging abnormalities.
- Findings suggest that seizures in CUL4B-associated cases can be drug-resistant and continue into later childhood, with about 43% of patients experiencing seizures, regardless of mutation type or neuroimaging results.
Article Abstract
Background: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown.
Purpose: This study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants in the CUL4B gene or brain MRI abnormalities may influence seizure onset and epilepsy course.
Methods: With this in mind, we characterised the epileptic phenotype of a 17-year-old adolescent harbouring a CUL4B novel variant and performed a systematic literature review of CUL4B-associated seizures, analysing mutation types and neuroimaging features as epilepsy predictors.
Results: Our case observation indicates that CUL4B-associated epilepsy may also be drug-resistant and persist beyond infancy. Literature analysis shows that 43% of CUL4B patients develop seizures, with no statistically significant differences in epilepsy development according to mutation type and neuroimaging features.
Conclusion: Our study extends knowledge of CUL4B-associated epilepsy, offering new insights into disease progression.
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| http://dx.doi.org/10.1016/j.seizure.2022.11.014 | DOI Listing |
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