CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

Authors: Verlaan, DJ  Laurent, SB  Sure, U  Bertalanffy, H  Andermann, E  Andermann, F  Rouleau, GA  Siegel, AM 
Citation: Verlaan DJ, etal., Neurology. 2004 Apr 13;62(7):1213-5.
Pubmed: (View Article at PubMed) PMID:15079030

Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.


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CRRD Object Information
CRRD ID: 1598379
Created: 2006-11-20
Species: All species
Last Modified: 2006-11-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.