Article
Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?
Gene - 25 Apr 2013
D'Angelo Rosalia, Scimone Concetta, Calabrò Marco, Schettino Carla, Fratta Mario, Sidoti Antonina
Abstract excerpt
Cerebral cavernous malformations (CCMs; OMIM 116860) are vascular anomalies mostly located in the central nervous system (CNS) and occasionally within the skin and retina. Main clinical manifestations are seizure, hemorrhage, recurrent headaches, focal neurological deficits and epileptic attacks....
Topics
- Adult
- Carrier Proteins
- Epilepsy
- Exons
- Female
- Gene Expression Regulation
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Italy
- Male
- Middle Aged
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- RNA, Messenger
- Real-Time Polymerase Chain Reaction