Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation

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 ea...

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Bibliographic Details
Main Authors: А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina
Format: Article
Language:Russian
Published: IRBIS LLC 2023-12-01
Series:Эпилепсия и пароксизмальные состояния
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Online Access:https://www.epilepsia.su/jour/article/view/962
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Summary: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.
ISSN:2077-8333
2311-4088