Article
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations.
Brain : a journal of neurology - 1 Sept 2023
Ren Jian, Huang Yazi, Ren Yeqing, Tu Tianqi, Qiu Baoshan, Ai Daosheng, Bi Zhanying, Bai Xue, Li Fengzhi, Li Jun-Liszt, Chen Xing-Jun, Feng Ziyan, Guo Zongpei, Lei Jianfeng, Tian An, Cui Ziwei, Lindner Volkhard, Adams Ralf H, Wang Yibo, Zhao Fei, Körbelin Jakob, Sun Wenzhi, Wang Yilong, Zhang Hongqi, Hong Tao, Ge Woo-Ping
Abstract excerpt
Cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs) are common vascular abnormalities of the CNS that can lead to seizure, haemorrhage and other neurological deficits. Approximately 85% of patients present with sporadic (versus congenital) CCMs. Somatic mutations in MAP3K3 and PIK3CA were recently reported in patients with sporadic CCM, yet it remains unknown whether MAP3K3...
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