Pedram Torabian
1, Mohamad Dehestani
2, Dorsa Morshedi Rad
2, Shima Peiravi
3, Mohsen Aghaie-Hakkak
4*, Hami Ashraf
51 Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran
2 Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
3 Technische Universität Dresden, Institute of Advanced Studies GmbH, Dresden, Germany
4 Epileptology Division, Department of Neurology, Razavi Hospital, Imam Reza International University, Mashhad, Iran
5 Department of Pathology, Ayatollah Taleghani Educational Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract
The genetic generalized epilepsies (GGEs) are a set of disorders presenting with generalized seizures, in addition to general spike-wave activity. The present study aims to investigate the clinical manifestations and genetic origin of generalized tonicclonic seizures and the subgroups of GGEs, including childhood absence epilepsy (CAE), juvenile absence epilepsy, and juvenile myoclonic epilepsy (JME). Information compiled from genome-wide association studies (GWASs) in the EPICure project revealed associations with many genes. Besides, copy number variant (CNV) discoveries have been the most inspiring turning point of epilepsy genetic research. This phenomenon could give us an idea about microdeletions/microduplications as genetic variants throughout the whole genome. Nowadays, next-generation sequencing (NGS) approaches support neurogeneticists to unravel the predisposed putative variants in GGE to establish a better diagnosis. Consequently, previous experiments supply data for antiepileptic drugs (AEDs) to test susceptible variants, which influence the response to drugs. As a final point, all these data should provide the current GGE patients with better genetic counseling and follow-up services.