Evaluation of Epilepsy Features in Patients with Genetic Epilepsy Starting in Infancy
Abstract number :
2.093
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2022
Submission ID :
2204917
Source :
www.aesnet.org
Presentation date :
12/4/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:27 AM
Authors :
tugce damla dilek, MD – Istanbul University Child Neurology Department; tugce damla dilek, MD – Istanbul University- Cerrahpasa Medicine Faculty , Child Neurology Department; aysel Guzeler, MD – Istanbul University, cerrahpasa medicine faculty Child Neurology Department; fitnat uluğ, MD – Istanbul University cerrahpasa medicine faculty Child Neurology Department; ezgi mollaoglu, MD – Istanbul University -cerrahpasa medicine faculty, Department of Pediatric; hüseyin Kılıç, MD – Istanbul University cerrahpasa medicine faculty Child Neurology Department; serhat guler, Associate Prof. – Bruni University - child neurology; sema saltik, Prof. – Istanbul University -Cerrahpasa Medicine Faculty , Child Neurology Department
Rationale: With the advent of genetic technology, a large number of genes with potential of ion channels dysfunction, metabolic abnormalities, and structural disorders such as cortical dysplasia have been discovered. Currently, genetic testing has become an essential part of clinical practice in epilepsy. Aim of this study is to describe clinical, etiological, prognostic features of epileptic children who had infantile onset seizures and were diagnosed as a result of genetic analysis.
Methods: This retrospective study was conducted in patients who were followed up for at least 6 months between 2017 and 2022 in Istanbul University Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatric Neurology. Totally 358 patients with epilepsy whose seizures started between the neonatal period and 1 year of age were evaluated for etiological causes. Etiology was described by 2017 ILAE as genetic, immune, structural, infectious, metabolic and unknown. Among these patients 144 patients with genetic disorders were enrolled in the study.
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Etiological causes of these patients were divided into two groups as primary genetic and genetic plus. Patients who have no etiological factor other than genetic cause were named as patients with primary genetic and patients who have comorbid disorders (such as immune, structural, infectious, metabolic) in addition to genetic etiology were named genetic plus etiology. According to the results of genetic analysis, the number and proportions of patients in the etiological groups were determined. Additionally, demographic, clinical, laboratory and prognostic features and electroencephalogram (EEG) and cranial MRI findings, were retrospectively recorded in each group.
Results: Total 144 patients, 65 (45.13%) females and 79 (54.87 %) males, were enrolled in the study. Seizure onset age of the patients ranged from 1 day to 12 months. Eight patients (5.5 %) had a history of prematurity. Rate of consanguineous marriage was 54%. The age of the patients ranged between 8 months and 21 years. Among the all these patients, the number of those with intractable epilepsy was as high as 68% (n = 98). The number of the patients with primary genetic etiology was 72 (50%). Among these patients while 10 (13.8 %) of them had chromosomal disorders, 62 (86.2%) of them had single gene mutations. Among these, the most common single gene mutations were SCN1A (n = 9, 14.5%) MECP2 (n = 4, 6.4%) and KCNQ2 (n = 4, 6,4%). The number of the patients with genetic plus etiology was also 72 (50%). Among these, the most common causes were metabolic (n = 50, 69.4%) and structural (n = 18, 25% ).
Conclusions: In this study, etiologies of patients whose seizures started between the neonatal period to 1 year of age were analyzed and genetic causes were found to be 40%. However genetic analysis have not been performed in all patients. In our clinic, which is a tertiary care center, a significant part of patients whose seizures started in infancy, had genetic etiology. Concurrently, patients with genetic etiologies showed a high rate of intractable epilepsy.
Funding: None
Clinical Epilepsy