Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.

Jing Zhang,Jiaoyang Chen,Qi Zeng, Liping Zhang,Xiaojuan Tian,Xiaoling Yang,Zhixian Yang,Ye Wu,Xiru Wu,Yuehua Zhang

Seizure（2019）

引用 7|浏览22

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摘要

•Epilepsia partialis continua (EPC) were common in TBC1D24 mutation related epilepsy.•The neuroimaging abnormal and hearing loss could exacerbate during follow up.•Dravet syndrome could be caused by TBC1D24 mutations.•The variant c.241_252del maybe a founder mutation in Chinese populations.

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关键词

TBC1D24,Epilepsy,Epilepsia partialis continua,Brain atrophy,Hearing loss

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