Article
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
European journal of human genetics : EJHG - 1 Nov 2002
Cavé-Riant Florence, Denier Christian, Labauge Pierre, Cécillon Michaelle, Maciazek Jacqueline, Joutel Anne, Laberge-Le Couteulx Sophie, Tournier-Lasserve Elisabeth
Abstract excerpt
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...
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