Article
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Annals of neurology - 1 Feb 2004
Denier Christian, Labauge Pierre, Brunereau Laurent, Cavé-Riant Florence, Marchelli Florence, Arnoult Minh, Cecillon Michaelle, Maciazek Jacqueline, Joutel Anne, Tournier-Lasserve Elisabeth
Abstract excerpt
Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions. Stereotyped truncating mutations of KRIT1, the sole CCM gene identified so far, have been identified in CCM1 linked families but the clinical features associated...
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