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5. A Case of Unilateral Closed-lip Schizencephaly Combined with Hypomyelination In Neonate

Author

Yuanlin Zhou, Li Liu, Xiaojia Shen, Guixu Lin, Xiaobin Wen, Yilin Zhou, and Sixuan Wang

Abstract

Background:Schizencephaly and hypomyelination are two different abnormity.Rarely study reports schizencephaly combined with hypomyelination. Case presentation: This study described a case of unilateral closed-lip schizencephaly combine with hypomyelination. This case with refractory epilepsy onset at earlier age and had poor prognosis. The novo GPSM2 c.1789T>C mutation was found in this case. GPSM2 c.1789T>C mutation may be an underlying mechanism for schizencephaly combined hypomyelination. Conclusions: In this study, we present a case of schizencephaly combined with hypomyelination presented severe clinical manifestations at neonate. The novo GPSM2 c.1789T>C mutation may be an underlying mechanism for schizencephaly combined with hypomyelination.

Published
2023

7. List of contributors

Author

Jinyu Chen, Wenxiao Jiang, Yanxiu Jin, Wenjing Li, Zhuochao Li, Yongtu Liang, Youyi Liang, Guixu Lin, Shikun Qi, Ryosuke Shibasaki, Xuan Song, Lu Wenyi, Qing Yu, Meng Yuan, Haoran Zhang, Chen Zhiheng, and Hao Zhou

Published
2023

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