The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients *


ALBUZ B., ÖZDEMİR Ö., SILAN F.

CLINICAL NEUROLOGY AND NEUROSURGERY, vol.202, 2021 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 202
  • Publication Date: 2021
  • Doi Number: 10.1016/j.clineuro.2021.106487
  • Journal Name: CLINICAL NEUROLOGY AND NEUROSURGERY
  • Journal Indexes: Science Citation Index Expanded, Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE

Abstract

OBJECTIVE: Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide. Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40 & ndash;60 % of all epilepsies. Copy number variations(CNVs) have been reported in approximately 5 & ndash;12 % of patients with different types of epilepsy.Here we aimed to determine the diagnostic yield of the aCGH in epilepsy and to reveal new candidate genes and CNVs by analyzing aCGH data retrospectively.