Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6 : case report and literature review.

Yan Dong,Ruofei Lian,Liang Jin,Shichao Zhao, Wenpeng Tao,Lijun Wang,Mengchun Li,Tianming Jia,Xuejing Chen,Shushi Cao

Frontiers in neurology（2023）

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摘要

Our patient is the first case with the c.1366 + 1G > C variant of in CS. The summary of known cases can serve as a reference for analyzing the mutation spectrum and pathogenesis of CS.

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关键词

Christianson syndrome, epilepsy, global developmental delay, whole-exome sequencing, genetics

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