KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE
Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2016-08-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/229 |
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| _version_ | 1849696027262582784 |
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| author | N. Yu. Borovikova K. S. Borovikov K. Yu. Mukhin M. B. Mironov |
| author_facet | N. Yu. Borovikova K. S. Borovikov K. Yu. Mukhin M. B. Mironov |
| author_sort | N. Yu. Borovikova |
| collection | DOAJ |
| description | Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examined |
| format | Article |
| id | doaj-art-8241e2892c2d47aeaa3fc91ea8bcc1e4 |
| institution | DOAJ |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2016-08-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-8241e2892c2d47aeaa3fc91ea8bcc1e42025-08-20T03:19:34ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882016-08-0134813228KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASEN. Yu. Borovikova0K. S. Borovikov1K. Yu. Mukhin2M. B. Mironov3Institute of Child Neurology and Epilepsy them. St. Luke, MoscowInstitute of Child Neurology and Epilepsy them. St. Luke, MoscowInstitute of Child Neurology and Epilepsy them. St. Luke, MoscowInstitute of Child Neurology and Epilepsy them. St. Luke, MoscowKabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examinedhttps://www.epilepsia.su/jour/article/view/229kabukiepilepsysyndrome |
| spellingShingle | N. Yu. Borovikova K. S. Borovikov K. Yu. Mukhin M. B. Mironov KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE Эпилепсия и пароксизмальные состояния kabuki epilepsy syndrome |
| title | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE |
| title_full | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE |
| title_fullStr | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE |
| title_full_unstemmed | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE |
| title_short | KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE |
| title_sort | kabuki syndrome with epilepsy clinical case |
| topic | kabuki epilepsy syndrome |
| url | https://www.epilepsia.su/jour/article/view/229 |
| work_keys_str_mv | AT nyuborovikova kabukisyndromewithepilepsyclinicalcase AT ksborovikov kabukisyndromewithepilepsyclinicalcase AT kyumukhin kabukisyndromewithepilepsyclinicalcase AT mbmironov kabukisyndromewithepilepsyclinicalcase |