Article
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
Neurology - 13 Apr 2004
Verlaan D J, Laurent S B, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau G A, Siegel A M
Abstract excerpt
Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, wher...
Topics
- Chromosomes, Human, Pair 7
- DNA Mutational Analysis
- Exons
- Genetic Testing
- Germany
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Incidence
- KRIT1 Protein
- Magnetic Resonance Imaging
- Microtubule-Associated Proteins