THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY
The currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms of epilepsy are reviewed. The optimal methods for laboratory confirmation of epilepsy are: in the case of suspected chromosome pathology – the chromosomal microarray analysis; in the case of a disease with...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2018-02-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/368 |
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| _version_ | 1849395596170887168 |
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| author | A. G. Malov |
| author_facet | A. G. Malov |
| author_sort | A. G. Malov |
| collection | DOAJ |
| description | The currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms of epilepsy are reviewed. The optimal methods for laboratory confirmation of epilepsy are: in the case of suspected chromosome pathology – the chromosomal microarray analysis; in the case of a disease with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA; and in the case of a disease suspected for a mitochondrial mutation – the mitochondrial DNA sequencing. |
| format | Article |
| id | doaj-art-cd145e89da604ee4b8a54746e80a4038 |
| institution | Kabale University |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2018-02-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-cd145e89da604ee4b8a54746e80a40382025-08-20T03:39:32ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882018-02-0194313410.17749/2077-8333.2017.9.4.031-034355THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSYA. G. Malov0Perm National State Medical University Named after academic E.A. Wagner of the Ministry of Healthcare of the Russian FederationThe currently accepted approaches to clinical and para-clinical diagnosis of hereditary forms of epilepsy are reviewed. The optimal methods for laboratory confirmation of epilepsy are: in the case of suspected chromosome pathology – the chromosomal microarray analysis; in the case of a disease with a suspected nuclear DNA mutation – the epilepsyassociated gene panel exome sequencing of nuclear DNA; and in the case of a disease suspected for a mitochondrial mutation – the mitochondrial DNA sequencing.https://www.epilepsia.su/jour/article/view/368hereditary epilepsyidiopathic epilepsy |
| spellingShingle | A. G. Malov THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY Эпилепсия и пароксизмальные состояния hereditary epilepsy idiopathic epilepsy |
| title | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY |
| title_full | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY |
| title_fullStr | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY |
| title_full_unstemmed | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY |
| title_short | THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY |
| title_sort | optimized methods for diagnosis of hereditary forms of epilepsy |
| topic | hereditary epilepsy idiopathic epilepsy |
| url | https://www.epilepsia.su/jour/article/view/368 |
| work_keys_str_mv | AT agmalov theoptimizedmethodsfordiagnosisofhereditaryformsofepilepsy AT agmalov optimizedmethodsfordiagnosisofhereditaryformsofepilepsy |