EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS)
Examinations were made in 11 female patients aged 3 to 23 years with Rett syndrome and typical mutation in the MECP2 gene, who had been followed up from 2006 to 2015. The investigators evaluated neurological and psychic status (systematically) and performed continuous video electroencephalographic (...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2016-04-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/136 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849303329498202112 |
|---|---|
| author | M. Yu. Bobylova K. Yu. Mukhin I. V. Ivanova I. V. Nekrasova O. A. Pylaeva N. Yu. Borovikova E. S. Il’ina |
| author_facet | M. Yu. Bobylova K. Yu. Mukhin I. V. Ivanova I. V. Nekrasova O. A. Pylaeva N. Yu. Borovikova E. S. Il’ina |
| author_sort | M. Yu. Bobylova |
| collection | DOAJ |
| description | Examinations were made in 11 female patients aged 3 to 23 years with Rett syndrome and typical mutation in the MECP2 gene, who had been followed up from 2006 to 2015. The investigators evaluated neurological and psychic status (systematically) and performed continuous video electroencephalographic (EEG) monitoring (if clinically indicated), magnetic resonance imaging, and molecular cytogenetic examination. Epilepsy was diagnosed in 6 (54.5 %) patients: symptomatic focal epilepsy in 5 cases and symptomatic generalized epilepsy in 1. The mean age at epilepsy onset was 3 years and 9 months. Generalized epileptic seizures were noted in 60 % of cases and focal ones in 40 %. EEG changes were revealed in 9 patients, 5 with slowing of background activity, 2 with regional epileptiform activity, and 1 with diffuse epileptiform activity that corresponded to that of the benign epileptiform patterns of childhood. Five patients were recorded to have multiregional epileptiform activity. |
| format | Article |
| id | doaj-art-b467a58d0aed40b5a56fa277475f0762 |
| institution | Kabale University |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2016-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-b467a58d0aed40b5a56fa277475f07622025-08-20T04:00:01ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782016-04-01111232810.17650/2073-8803-2016-11-1-23-28112EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS)M. Yu. Bobylova0K. Yu. Mukhin1I. V. Ivanova2I. V. Nekrasova3O. A. Pylaeva4N. Yu. Borovikova5E. S. Il’ina6Svt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and Epilepsy; Russian Children’s Clinical Hospital, Ministry of Health of RussiaRussian Children’s Clinical Hospital, Ministry of Health of RussiaSvt. Luka’s Institute of Child Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and EpilepsyRussian Children’s Clinical Hospital, Ministry of Health of RussiaExaminations were made in 11 female patients aged 3 to 23 years with Rett syndrome and typical mutation in the MECP2 gene, who had been followed up from 2006 to 2015. The investigators evaluated neurological and psychic status (systematically) and performed continuous video electroencephalographic (EEG) monitoring (if clinically indicated), magnetic resonance imaging, and molecular cytogenetic examination. Epilepsy was diagnosed in 6 (54.5 %) patients: symptomatic focal epilepsy in 5 cases and symptomatic generalized epilepsy in 1. The mean age at epilepsy onset was 3 years and 9 months. Generalized epileptic seizures were noted in 60 % of cases and focal ones in 40 %. EEG changes were revealed in 9 patients, 5 with slowing of background activity, 2 with regional epileptiform activity, and 1 with diffuse epileptiform activity that corresponded to that of the benign epileptiform patterns of childhood. Five patients were recorded to have multiregional epileptiform activity.https://rjdn.abvpress.ru/jour/article/view/136hereditary diseases in childrenrett syndromemecp2 geneepilepsyepileptic seizurevideo electroencephalographic monitoringdiagnosistreatmentprognosis |
| spellingShingle | M. Yu. Bobylova K. Yu. Mukhin I. V. Ivanova I. V. Nekrasova O. A. Pylaeva N. Yu. Borovikova E. S. Il’ina EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) Русский журнал детской неврологии hereditary diseases in children rett syndrome mecp2 gene epilepsy epileptic seizure video electroencephalographic monitoring diagnosis treatment prognosis |
| title | EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) |
| title_full | EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) |
| title_fullStr | EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) |
| title_full_unstemmed | EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) |
| title_short | EPILEPSY IN 11 PATIENTS WITH TYPICAL RETT SYNDROME CAUSED BY MECP2 MUTATION: CLINICAL AND ELECTROENCEPHALOGRAPHIC CHARACTERISTICS, COURSE, THERAPY (RESULTS OF THE AUTHORS’ OBSERVATIONS) |
| title_sort | epilepsy in 11 patients with typical rett syndrome caused by mecp2 mutation clinical and electroencephalographic characteristics course therapy results of the authors observations |
| topic | hereditary diseases in children rett syndrome mecp2 gene epilepsy epileptic seizure video electroencephalographic monitoring diagnosis treatment prognosis |
| url | https://rjdn.abvpress.ru/jour/article/view/136 |
| work_keys_str_mv | AT myubobylova epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT kyumukhin epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT ivivanova epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT ivnekrasova epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT oapylaeva epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT nyuborovikova epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations AT esilina epilepsyin11patientswithtypicalrettsyndromecausedbymecp2mutationclinicalandelectroencephalographiccharacteristicscoursetherapyresultsoftheauthorsobservations |