Conference proceedings

GENETIC TESTING IN PEDIATRIC EPILEPSY 
University clinic for pediatric diseases, department of neurology, Skopje, North 
Macedonia 
University clinic of neurology, Skopje, North Macedonia 
Email: [e-mail] 
Abstract
: Epilepsy is one of the most common neurologic disorders, 
affecting 1% of the population of which about one-third of patients have refractory epilepsy (i.e., seizures not controlled by two or 
more appropriately chosen antiepileptic medications) and approximately 75% of epilepsy begins during childhood, regarding the 
susceptibility of the developing brain to seizures.
With the development of genetic technology, an increasing number of genes associated with epilepsy are 
identified. These discoveries will improve diagnosis and treatment of epilepsy and provide the basis for including genetic 
tests in clinical practice. Researchers found 977 genes that are associated with epilepsy and classified these genes into 4 
categories according to the manifestation of epilepsy in phenotypes and found 84 genes that are considered as epilepsy 
genes (genes that cause epilepsies or syndromes with epilepsy as the core symptom), 73 genes as neurodevelopment-
associated genes ( genes associated with both brain-development malformations and epilepsy ) and several genes (536) 
that were epilepsy-related (genes associated with both physical or other systemic abnormalities and epilepsy or seizures). 
They also reported 284 additional genes putatively associated with epilepsy that requires further verification. Most 
commonly used genetic tests in the evaluation of children with epilepsy include chromosomal microarray, epilepsy 
gene panels, and whole-exome sequencing, with each test having its own specific benefits and limitations.
The main objective of this study is showing the importance of including genetic tests in the clinical practice and 
evaluating the results of genetic tests with the goal to better characterize the association between genes and epilepsies and 
to further understand the mechanisms of underlying epilepsy.
Genetic testing is important for epilepsy as it may lead to an accurate diagnosis, the best possible treatment plan, 
and information to improve long-term outcome and family planning and it may be particularly helpful for individuals 
with genetic epilepsy disorders whose seizures are not well-controlled.