Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

Abstract

Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.