Drug-resistant epilepsy cases in chromosomal pathology
Two cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial...
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| Format: | Article |
| Language: | Russian |
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IRBIS LLC
2024-10-01
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| Series: | Эпилепсия и пароксизмальные состояния |
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| Online Access: | https://www.epilepsia.su/jour/article/view/1103 |
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| author | L. B. Novikova A. P. Akopyan R. F. Latypova N. M. Faizullina |
| author_facet | L. B. Novikova A. P. Akopyan R. F. Latypova N. M. Faizullina |
| author_sort | L. B. Novikova |
| collection | DOAJ |
| description | Two cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial skull microanomaly. In the second case, it was expressed in tonic epileptic seizures, delayed psycho-verbal development, developmental microanomalies, pyramidal atactic syndrome and hand joint hypermobility. Such clinical observations are of professional and scientific interest, as they relate to a rare neurological pathology, with drug-resistant epilepsy as a leading sign. |
| format | Article |
| id | doaj-art-6da8f7d3faec46598a1920ac615fcbb1 |
| institution | Kabale University |
| issn | 2077-8333 2311-4088 |
| language | Russian |
| publishDate | 2024-10-01 |
| publisher | IRBIS LLC |
| record_format | Article |
| series | Эпилепсия и пароксизмальные состояния |
| spelling | doaj-art-6da8f7d3faec46598a1920ac615fcbb12025-08-20T03:57:32ZrusIRBIS LLCЭпилепсия и пароксизмальные состояния2077-83332311-40882024-10-0116310.17749/2077-8333/epi.par.con.2024.187651Drug-resistant epilepsy cases in chromosomal pathologyL. B. Novikova0A. P. Akopyan1R. F. Latypova2N. M. Faizullina3Bashkir State Medical UniversityBashkir State Medical UniversityBashkir State Medical UniversityBashkir State Medical UniversityTwo cases of epilepsy in patients with a rare hereditary pathology associated with a chromosomal mutation caused deletion of chromosome 14 are presented. In the first case, this pathology was manifested in the child by generalized tonic-clonic seizures, delayed psycho-verbal development, and facial skull microanomaly. In the second case, it was expressed in tonic epileptic seizures, delayed psycho-verbal development, developmental microanomalies, pyramidal atactic syndrome and hand joint hypermobility. Such clinical observations are of professional and scientific interest, as they relate to a rare neurological pathology, with drug-resistant epilepsy as a leading sign.https://www.epilepsia.su/jour/article/view/1103drug-resistant epilepsychromosomal diseasesdeletionring chromosomering 14 chromosome syndromer(14)-related epilepsy |
| spellingShingle | L. B. Novikova A. P. Akopyan R. F. Latypova N. M. Faizullina Drug-resistant epilepsy cases in chromosomal pathology Эпилепсия и пароксизмальные состояния drug-resistant epilepsy chromosomal diseases deletion ring chromosome ring 14 chromosome syndrome r(14)-related epilepsy |
| title | Drug-resistant epilepsy cases in chromosomal pathology |
| title_full | Drug-resistant epilepsy cases in chromosomal pathology |
| title_fullStr | Drug-resistant epilepsy cases in chromosomal pathology |
| title_full_unstemmed | Drug-resistant epilepsy cases in chromosomal pathology |
| title_short | Drug-resistant epilepsy cases in chromosomal pathology |
| title_sort | drug resistant epilepsy cases in chromosomal pathology |
| topic | drug-resistant epilepsy chromosomal diseases deletion ring chromosome ring 14 chromosome syndrome r(14)-related epilepsy |
| url | https://www.epilepsia.su/jour/article/view/1103 |
| work_keys_str_mv | AT lbnovikova drugresistantepilepsycasesinchromosomalpathology AT apakopyan drugresistantepilepsycasesinchromosomalpathology AT rflatypova drugresistantepilepsycasesinchromosomalpathology AT nmfaizullina drugresistantepilepsycasesinchromosomalpathology |