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Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Rath, Matthias ; Spiegler, Stefanie ; Nath, Neetika ; Schwefel, Konrad ; Di Donato, Nataliya ; Gerber, Johannes ; Korenke, G. Christoph ; Hellenbroich, Yorck ; Hehr, Ute ; Gross, Stephanie ; Sure, Ulrich ; Zoll, Barbara ; Gilberg, Eberhard ; Kaderali, Lars ; Felbor, Ute



Abstract

BackgroundCerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1, CCM2, and CCM3 genes remains unknown. MethodsWe here present a series of six trios with de novo mutations ...

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