title: CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.
abstract: 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.
authors.affiliation: Center for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
authors.forename: D J
authors.initials: DJ
authors.lastname: Verlaan
authors.forename: S B
authors.initials: SB
authors.lastname: Laurent
authors.forename: U
authors.initials: U
authors.lastname: Sure
authors.forename: H
authors.initials: H
authors.lastname: Bertalanffy
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Andermann
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: A M
authors.initials: AM
authors.lastname: Siegel
mesh_terms: D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D005858:Germany / Q000453:epidemiology; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013557:Switzerland / Q000453:epidemiology
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins