KCNQ2 基因突变导致的发育性和癫痫性脑病的临床特征

Q4 Medicine Epilepsy and Paroxysmal Conditions Pub Date : 2023-12-22 DOI:10.17749/2077-8333/epi.par.con.2023.171

А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina

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引用次数: 0

摘要

国际抗癫痫联盟（International League Against Epilepsy）于 2022 年提出了当前的癫痫综合征分类法，将 KCNQ2 基因突变导致的发育性癫痫性脑病（DEE）确定为一种独立的命名形式。这种疾病的另一个名称是 DEE 7 型或早期婴儿癫痫性脑病 7 型（OMIM: 613720）。文章简要回顾了相关文献以及我们个人对这种罕见病症的临床观察。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 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 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.

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