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, th...
Topics
- Adolescent
- Adult
- Aged
- Brain
- Cerebral Hemorrhage
- Child
- Child, Preschool
- Female
- Hemangioma, Cavernous, Central Nervous System
- Heterozygote
- Humans
- Infant