A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.

Yuto Arai,Tohru Okanishi, Sotaro Kanai,Tetsuya Okazaki,Eriko Koshimizu,Satoko Miyatake, Yukinori Maeoka,Ayataka Fujimoto,Naomichi Matsumoto,Yoshihiro Maegaki

Brain & development（2022）

引用 0|浏览4

暂无评分

摘要

We present a case of the patient with ALG11-CDG diagnosed using post-mortem WES. The EEG revealed a S-B pattern that indicated severely drug-resistant DEE, which was associated with poor prognosis. If a CDG is suspected, WES should be considered.

查看译文

关键词

ALG11-congenital disorders of glycosylation,Developmental and epileptic encephalopathy,EEG,Intractable epilepsy,Suppression-burst pattern

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要