Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation
| Autor: | А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina |
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| Jazyk: | ruština |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Эпилепсия и пароксизмальные состояния, Vol 15, Iss 4, Pp 354-360 (2023) |
| Druh dokumentu: | article |
| ISSN: | 2077-8333 2311-4088 |
| DOI: | 10.17749/2077-8333/epi.par.con.2023.171 |
| Popis: | Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alternative names for this disease are DEE type 7 or early infantile epileptic encephalopathy type 7 (OMIM: 613720). The article presents a brief literature review on the topic as well as our personal clinical observation of this rare pathology. |
| Databáze: | Directory of Open Access Journals |
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