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Article

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation.

Chinese medical journal - 1 Jan 2013

Wang Xue, Liu Xue-Wu, Lee Nora, Liu Qi-Ji, Li Wen-Na, Han Tao, Wei Kun-Kun, Qiao Shan, Chi Zhao-Fu

Abstract excerpt

BACKGROUND: Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI)...

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PMID: 24034083

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