Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein–Taybi syndrome

IF 2.7 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy Pub Date : 2025-05-15 DOI:10.1016/j.seizure.2025.05.012

Kohei Matsubara , Kohei Yamakawa , Risako Ishioka , Masataka Fukuoka , Nukui Megumi , Takeshi Inoue , Ichiro Kuki , Yuri Uchiyama , Takeshi Mizuguchi , Naomichi Matsumoto , Shin Okazaki

引用次数: 0

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与致病性CREBBP变异相关的肌阵挛性缺失癫痫：鲁宾斯坦-泰比综合征1例报告

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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来源期刊

Seizure-European Journal of Epilepsy 医学-临床神经学

CiteScore

5.60

自引率

6.70%

发文量

231

审稿时长

34 days

期刊介绍： Seizure - European Journal of Epilepsy is an international journal owned by Epilepsy Action (the largest member led epilepsy organisation in the UK). It provides a forum for papers on all topics related to epilepsy and seizure disorders.