Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

@article{CavRiant2002SpectrumAE,
  title={Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations},
  author={Florence Cav{\'e}-Riant and Christian Denier and Pierre Labauge and Michaelle C{\'e}cillon and Jacqueline Maciazek and Anne Joutel and Sophie Laberge-le Couteulx and Elisabeth Tournier-Lasserve},
  journal={European Journal of Human Genetics},
  year={2002},
  volume={10},
  pages={733-740}
}
Cerebral Cavernous Malformations (CCM/MIM 604214) are vascular malformations characterised by abnormally enlarged capillary cavities without intervening brain parenchyma. Clinical manifestations include seizures, cerebral haemorrhages and focal neurological deficits. They occur as a sporadic or autosomal dominant condition. Most often, sporadic cases have only one lesion and familial cases are characterised by a high frequency of multiple lesions. Three CCM loci were previously mapped on 7q… CONTINUE READING

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