Significance of exome sequencing for diagnosis of epilepsy in children
https://doi.org/10.17749/2077-8333.2019.11.4.379-387
Abstract
Introduction. Epilepsy is a neurological disorder characterized by periodic seizure attacks. Around 70–80% of epilepsy cases have a hereditary component.
Aim: to identify the genetic factors of pharmacoresistant epilepsy in children.
Materials and methods. Fifty two patients with epilepsy and psychomotor / speech retardation were examined. We used the next generation sequencing (NGS) technique, which is the targeted exome sequencing, the “Hereditary epilepsy” panel of genes, and the whole exome sequencing assay.
Results. Mutations were detected in 30 (57.7%) patients, while 22 patients had no mutations. In the latter cases, either epilepsy was of non-hereditary nature or the tested nucleotide sequence was located in the non-coding part of the gene (intron); in addition, a chromosomal rearrangement could be involved.
Conclusion. The obtained data illustrate a diagnostic significance of the whole exome sequencing and encourage the interaction between an epileptologist and a geneticist in the diagnostic procedure. Identification of the genetic base of the disease is of great importance for genetic counseling and for selecting an antiepileptic therapy in this group of patients.
The authors declare about the absence of conflict of interest with respect to this publication. Authors contributed equally to this article.
About the Authors
T. V. Kozhanova
St. Luka’s Clinical Research Center for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatyana V. Kozhanova – MD, PhD, Researcher of the genetic group of the scientific department, laboratory geneticist,
associate professor, department of neurology, neurosurgery and medical genetics, pediatric faculty
S. S. Zhilina
St. Luka’s Clinical Research Center for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Svetlana S. Zhilina – MD, PhD, Lead researcher of the genetic group of the scientific department, geneticist
associate professor, department of neurology, neurosurgery and medical genetics, pediatric faculty
T. I. Meshheryakova
St. Luka’s Clinical Research Center for Children
Russian Federation
Tatyana I. Meshheryakova – MD, PhD, Lead Researcher-Geneticist, Research Department,
Russian Federation
Tatyana I. Meshheryakova – MD, PhD, Lead Researcher-Geneticist, Research Department,
K. V. Osipova
St. Luka’s Clinical Research Center for Children
Russian Federation
Karina V. Osipova – MD, PhD, Head of the Psychoneurology Department
Russian Federation
Karina V. Osipova – MD, PhD, Head of the Psychoneurology Department
S. O. Ayvazyan
St. Luka’s Clinical Research Center for Children
Russian Federation
Sergey O. Ayvazyan – MD, PhD, Head, Resistant Epilepsy Unit
Russian Federation
Sergey O. Ayvazyan – MD, PhD, Head, Resistant Epilepsy Unit
A. G. Prityko
St. Luka’s Clinical Research Center for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Andrey G. Prityko – МD., PhD., Professor of Russian Academy of Natural Sciences, Director
Head of the department of maxillofacial surgery and dentistry, Faculty of Pediatrics
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For citations:
Kozhanova T.V., Zhilina S.S., Meshheryakova T.I., Osipova K.V., Ayvazyan S.O., Prityko A.G. Significance of exome sequencing for diagnosis of epilepsy in children. Epilepsy and paroxysmal conditions. 2019;11(4):379-387. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.4.379-387
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