Article
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
Nature genetics - 1 Oct 1999
Laberge-le Couteulx S, Jung H H, Labauge P, Houtteville J P, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach J F, Tournier-Lasserve E
Abstract excerpt
Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited as an autosomal dominant condition in as much as 50% of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.