Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations

Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations

Abstract Cerebral cavernous malformations (CCMs) are hemorrhagic vascular disorders with varied clinical and radiological presentations, occurring sporadically due to MAP3K3 or PIK3CA mutations or through inherited germline mutations of CCM genes. This study aimed to clarify the clinical, genetic, a...

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Main Authors: Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Acta Neuropathologica Communications
Subjects:
MAP3K3
PIK3CA
Vascular malformations
Hemorrhage
Epilepsy
Online Access:https://doi.org/10.1186/s40478-025-01940-1
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