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Neurology. 2004 Apr 13;62(7):1213-5.

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

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  • 1Center for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.


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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