Article
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
Journal of molecular neuroscience : MN - 1 Feb 2017
Scimone Concetta, Bramanti Placido, Alafaci Concetta, Granata Francesca, Piva Francesco, Rinaldi Carmela, Donato Luigi, Greco Federica, Sidoti Antonina, D'Angelo Rosalia
Abstract excerpt
Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain. To date, three CCM causative genes have been identified: CCM1/KRIT1, CCM2/MGC4607...
Topics
- Adolescent
- Adult
- Apoptosis Regulatory Proteins
- Carrier Proteins
- Child
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Infant
- KRIT1 Protein