Publication
Title
First report of Tunisian patients with CDKL5‐related encephalopathy
Author
Abstract
Objective: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early-onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenotypic features in 8 Tunisian patients with CDKL5-related encephalopathy. Methods: We included all cases with clinical features consistent with CDKL5-related encephalopathy: infantile epileptic spasm, acquired microcephaly, movement disorders and visual impairment. We collected data about seizure types, electroencephalogram, magnetic resonance imaging and metabolic analysis. The diagnosis of CDKL5 mutation was made thanks to Sanger sequencing with an ABI PRISM 3100-Avant automated DNA sequencer using a Big Dye Terminator Cycle Sequencing Reaction Kit v1.1. and Next Generation Sequencing (NGS) since the development of a gene panel responsible for DEE within the framework of “Strengthening the Sfax University Expertise for diagnosis and management of epileptic encephalopathies”. Results: We collected 4 boys and 4 girls aged meanly 6-years-old with confirmed mutation on CDKL5 gene. Overall, we identified 5 de novo CDKL5 mutations including three Frameshift mutations; one missense mutation and a splicing variant. The mean age at first seizure onset was 4 months. The first seizure type was infantile epileptic spasm (4/8) followed by tonic (2/8) and myoclonic seizures (2/8). Out of 8 cases, 4 exhibited two stages epileptic course while epilepsy in 3 other patients progressed on three stages. Regarding development, most cases (6/8) had psychomotor retardation from the start whilst the two others showed psychomotor regression with the onset of seizures. Additional clinical features included visual impairment (7/8), tone abnormalities (7/8), stereotypies (7/8) and acquired microcephaly (6/8). Significance: Our present report delineates an unusual phenotype of CDKL5-related encephalopathy with male gender predominance and delayed onset epilepsy. It interestingly described new phenotypic features and uncommon benign developmental profiles in boys, different patterns of CDKL5-epilepsy, neuroimaging findings and CDKL5 mutational spectru
Language
English
Source (journal)
Epilepsia Open. - [S.l.]
Publication
[S.l.] : Wiley , 2024
ISSN
2470-9239
DOI
10.1002/EPI4.12824
Volume/pages
9 :3 (2024) , p. 906-917
ISI
001209480400001
Pubmed ID
37701975
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 20.09.2023
Last edited 06.11.2024
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