Genetics of cerebral cavernous malformations: current status and future prospects.

@article{Choquet2015GeneticsOC,
  title={Genetics of cerebral cavernous malformations: current status and future prospects.},
  author={H{\'e}l{\`e}ne Choquet and Ludmila Pawlikowska and M T Lawton and Ho-sung Kim},
  journal={Journal of neurosurgical sciences},
  year={2015},
  volume={59 3},
  pages={211-20}
}
Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and… CONTINUE READING

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