Article
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Seizure - 1 Jan 2023
Della Vecchia Stefania, Lopergolo Diego, Trovato Rosanna, Pasquariello Rosa, Ferrari Anna Rita, Bartolini Emanuele
Abstract excerpt
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...
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