Impact of copy number variants in epilepsy plus neurodevelopment disorders

• Type: Article in International Scientific Journal
• Date: 2024

Authors

João, S (Author) Other; Quental, R (Author) Other; Pinto, J (Author) Other; Almeida, C (Author) Other; Santos, H (Author) Other; doria, s (Author) FMUP

Journal

Title: Seizure : the journal of the British Epilepsy Association

Vol. 117

Pages: 6-12

ISSN: 1059-1311

Publisher: Elsevier

Indexing

Scopus

Other information

Authenticus ID: P-010-0PD

DOI: 10.1016/j.seizure.2024.01.009

Abstract (EN): Introduction: Epilepsy, a neurological disorder characterized by recurring unprovoked seizures due to excessive neuronal excitability, is primarily attributed to genetic factors, accounting for an estimated 70 % of cases. Array-comparative genomic hybridization (aCGH) is a crucial genetic test for detecting copy number variants (CNVs) associated with epilepsy. This study aimed to analyze a cohort of epilepsy patients with CNVs detected through aCGH to enhance our understanding of the genetic underpinnings of epilepsy. Methods: A retrospective cross-sectional study was conducted using the aCGH database from the Genetics Department of the Faculty of Medicine of the University of Porto, encompassing 146 patients diagnosed with epilepsy, epileptic encephalopathy, or seizures. Clinical data were collected, and aCGH was performed following established guidelines. CNVs were classified based on ACMG standards, and patients were categorized into four groups according to their clinical phenotype. Results: Among the 146 included patients, 94 (64 %) had at least one CNV, with 22 (15.1 %) classified as pathogenic or likely pathogenic. Chromosomes 1, 2, 16, and X were frequently implicated, with Xp22.33 being the most reported region (8 CNVs). The phenotype "Epilepsy and global developmental delay/intellectual disability" showed the highest prevalence of clinically relevant CNVs. Various CNVs were identified across different groups, suggesting potential roles in epilepsy. Conclusions: This study highlights the significance of aCGH in unraveling the genetic basis of epilepsy and tailoring treatment strategies. It contributes valuable insights to the expanding knowledge in the field, emphasizing the need for research to elucidate the diverse genetic causes of epilepsy. © 2024

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6