Significance of exome sequencing for diagnosis of epilepsy in children
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 psychomo...
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| Format: | Article |
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IRBIS LLC
2020-01-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/504 |
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| author | T. V. Kozhanova S. S. Zhilina T. I. Meshheryakova K. V. Osipova S. O. Ayvazyan A. G. Prityko |
| author_facet | T. V. Kozhanova S. S. Zhilina T. I. Meshheryakova K. V. Osipova S. O. Ayvazyan A. G. Prityko |
| author_sort | T. V. Kozhanova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-dc9e5eb4687d4dddb431b70fa74c9dc6 |
| institution | Kabale University |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2020-01-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-dc9e5eb4687d4dddb431b70fa74c9dc62025-08-20T03:57:32ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882020-01-0111437938710.17749/2077-8333.2019.11.4.379-387470Significance of exome sequencing for diagnosis of epilepsy in childrenT. V. Kozhanova0S. S. Zhilina1T. I. Meshheryakova2K. V. Osipova3S. O. Ayvazyan4A. G. Prityko5St. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical UniversitySt. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical UniversitySt. Luka’s Clinical Research Center for ChildrenSt. Luka’s Clinical Research Center for ChildrenSt. Luka’s Clinical Research Center for ChildrenSt. Luka’s Clinical Research Center for Children; Pirogov Russian National Research Medical UniversityIntroduction. 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.https://www.epilepsia.su/jour/article/view/504epilepsyepileptic encephalopathyexome sequencinggenetic counselingantiepileptic therapy |
| spellingShingle | T. V. Kozhanova S. S. Zhilina T. I. Meshheryakova K. V. Osipova S. O. Ayvazyan A. G. Prityko Significance of exome sequencing for diagnosis of epilepsy in children Эпилепсия и пароксизмальные состояния epilepsy epileptic encephalopathy exome sequencing genetic counseling antiepileptic therapy |
| title | Significance of exome sequencing for diagnosis of epilepsy in children |
| title_full | Significance of exome sequencing for diagnosis of epilepsy in children |
| title_fullStr | Significance of exome sequencing for diagnosis of epilepsy in children |
| title_full_unstemmed | Significance of exome sequencing for diagnosis of epilepsy in children |
| title_short | Significance of exome sequencing for diagnosis of epilepsy in children |
| title_sort | significance of exome sequencing for diagnosis of epilepsy in children |
| topic | epilepsy epileptic encephalopathy exome sequencing genetic counseling antiepileptic therapy |
| url | https://www.epilepsia.su/jour/article/view/504 |
| work_keys_str_mv | AT tvkozhanova significanceofexomesequencingfordiagnosisofepilepsyinchildren AT sszhilina significanceofexomesequencingfordiagnosisofepilepsyinchildren AT timeshheryakova significanceofexomesequencingfordiagnosisofepilepsyinchildren AT kvosipova significanceofexomesequencingfordiagnosisofepilepsyinchildren AT soayvazyan significanceofexomesequencingfordiagnosisofepilepsyinchildren AT agprityko significanceofexomesequencingfordiagnosisofepilepsyinchildren |