Akademik Veri Yönetim Sistemi
10. INTERNATIONAL GEVHER NESİBE MEDICAL SCIENCES CONFERENCE, Ankara, Türkiye, 3 - 05 Şubat 2023, ss.9-10
Introduction: Epilepsy is a genotypic and phenotypic heterogeneous group of diseases in which genetic etiology plays a role at a rate of 50-70%. Detection of submicroscopic abberations in parallel with the developments in genetic technologies has revealed the relationship of multiple copy number variations (CNV) with the epilepsy phenotype. Contribution of CNVs to genetic etiology in different types of epilepsy varies between 5-12%. In this study, it is aimed to discuss CNVs detected in patients followed up for epilepsy in the context
of clinical and genetic findings.
Methods: Between January 2022 and January 2023, seventeen cases (5 boys, 12 girls) who applied to
Kartal Dr. Lütfi Kırdar City Hospital Pediatric Neurology Clinic with the diagnosis of epilepsy were
evaluated in terms of family history, physical examination, laboratory, electroencephalogram (EEG)
and cranial magnetic resonance imaging (MRI) findings. All cases were analyzed by single nucleotide
polymorphism (SNP) array method for CNV detection for genetic etiology.
Results: The mean age of 17 patients included in the study was 5.2 years. All of the cases exhibited
developmental delay, seven had facial dysmorphic features, three had microcephaly, and one had a
congenital cardiac defect. Three cases had CNVs on the X chromosome, and other cases had CNVs on
the autosomal chromosome. Deletion in 10 cases, duplication in 4 cases, and both deletion and
duplication were detected in 3 cases. Recurrent deletion/duplication syndrome (4p deletion syndrome
in 2 cases, 16p11.2 deletion in 2 cases, Xp11.23-11.22 duplication, 3p deletion, Xq28 deletion) was
detected in seven patients. In the other 11 cases, rare CNVs involving different chromosomes (8q, 8p,
9p, 2q, 4q, 6q, Xp, 16p) were detected. The genes MECP2, PRRT2, KCNQ3, NUS1, and NDE1 will
explain the epilepsy phenotype in cases of gene deletion, while CDKL5 and SMARCA2 will explain
the phenotype in cases of gene duplication.
Discussion: SNP-array analysis can uncover recurrent microdeletion/duplication syndromes and rare
CNVs comprising genes known to be related with epilepsy in cases of epilepsy, which can help to
explain the patient's phenotype. The identification of a molecular etiology is crucial for syndromic
case monitoring, strategizing an epilepsy treatment plan, and providing genetic counseling to the
family.