RGD Reference Report - CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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.
RGD ID: 1598379
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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Krit1  (KRIT1, ankyrin repeat containing)

Genes (Homo sapiens)
KRIT1  (KRIT1 ankyrin repeat containing)


Additional Information