Atypical course of severe myoclonic epilepsy of infancy (Dravet syndrome)
| Autor: | B. A. Abusueva, M. D. Shanavazova, М. A. Askevova, V. S. Khalilov, M. Yu. Bobylova |
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| Jazyk: | ruština |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Эпилепсия и пароксизмальные состояния, Vol 16, Iss 2, Pp 130-136 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2077-8333 2311-4088 |
| DOI: | 10.17749/2077-8333/epi.par.con.2024.180 |
| Popis: | A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation is presented. Dravet syndrome is a severe epileptic encephalopathy that occurs in early childhood, accompanied by seizure polymorphism, drug-resistant course and severe cognitive impairment. The current clinical case confirms the opportunity for drug controlled course of Dravet syndrome. A two-year remission was achieved using polytherapy with antiepileptic drugs. Currently, a complete remission during duotherapy with topiramate in combination with levetiracetam is sustained. The described clinical case also demonstrates preservation of cognitive functions: the child successfully acquires full general education program. It should be noted that upon early relief of epileptic seizures, no cognitive functions become affected. |
| Databáze: | Directory of Open Access Journals |
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