SYN1 mutation causes X-linked toothbrushing epilepsy in a Chinese Family
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下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA751964
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资源简介：
Toothbrushing epilepsy is a rare form of reflex epilepsy (RE) with sporadic incidence. To characterize the genetic profile of reflex epilepsy patients with tooth brushing-induced seizures in a Chinese family. Solo clinical whole-exome sequencing (WES) of the proband, a 37-year-old Chinese man, was performed to characterize the genetic etiology of toothbrushing epilepsy. Our findings provide novel insights into the mechanism of this complex form of reflex epilepsy that could potentially be applied in disease diagnosis.
创建时间：
2021-08-03
