## Abstract 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
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation
β Scribed by Shantan Reddy; Michael B. Gorin; Tara A. McCannel; Irena Tsui; Bradley R. Straatsma
- Publisher
- Springer-Verlag
- Year
- 2010
- Tongue
- English
- Weight
- 149 KB
- Volume
- 248
- Category
- Article
- ISSN
- 0065-6100
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Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mu
## Abstract Cavernous vascular malformations may affect brain and outβofβbrain tissues. In most cases, cerebral cavernous malformations (CCMs) involve the brain alone, and are rarely associated with skin hemangiomas, spinal cord, retinal, hepatic or vertebral lesions. CCMs can cause seizures, intra