Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case
The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of e...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2025-04-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/510 |
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| author | M. S. Maslov A. M. Sviridova M. A. Zalevskaya |
| author_facet | M. S. Maslov A. M. Sviridova M. A. Zalevskaya |
| author_sort | M. S. Maslov |
| collection | DOAJ |
| description | The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of epilepsy in this syndrome, make the presented clinical case relevant and useful for pediatric specialists (neurologists, geneticists, pediatricians). In addition, the article presents the experience of using hormone therapy in the treatment of epilepsy, which also had an effect on the main manifestation of the disease (capillary malformations). |
| format | Article |
| id | doaj-art-fd3ff48c40ee40f2a1dbabae8e694c90 |
| institution | Kabale University |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2025-04-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-fd3ff48c40ee40f2a1dbabae8e694c902025-08-20T03:44:13ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782025-04-01201323810.17650/2073-8803-2025-20-1-32-38344Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical caseM. S. Maslov0A. M. Sviridova1M. A. Zalevskaya2Tula Children’s Regional Clinical HospitalTula Children’s Regional Clinical HospitalTula Children’s Regional Clinical HospitalThe article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of epilepsy in this syndrome, make the presented clinical case relevant and useful for pediatric specialists (neurologists, geneticists, pediatricians). In addition, the article presents the experience of using hormone therapy in the treatment of epilepsy, which also had an effect on the main manifestation of the disease (capillary malformations).https://rjdn.abvpress.ru/jour/article/view/510epilepsyinfantile epilepsymicrocephaly-capillary malformation syndrome<i>stambp</i> geneearly infantile epileptic encephalopathyearly infantile myoclonic epileptic encephalopathyantiepileptic therapypharmacoresistant epilepsy |
| spellingShingle | M. S. Maslov A. M. Sviridova M. A. Zalevskaya Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case Русский журнал детской неврологии epilepsy infantile epilepsy microcephaly-capillary malformation syndrome <i>stambp</i> gene early infantile epileptic encephalopathy early infantile myoclonic epileptic encephalopathy antiepileptic therapy pharmacoresistant epilepsy |
| title | Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
| title_full | Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
| title_fullStr | Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
| title_full_unstemmed | Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
| title_short | Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case |
| title_sort | early infantile epileptic encephalopathy in the structure of microcephaly capillary malformation syndrome a clinical case |
| topic | epilepsy infantile epilepsy microcephaly-capillary malformation syndrome <i>stambp</i> gene early infantile epileptic encephalopathy early infantile myoclonic epileptic encephalopathy antiepileptic therapy pharmacoresistant epilepsy |
| url | https://rjdn.abvpress.ru/jour/article/view/510 |
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