Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions. Stereotyped truncating mutations of KRIT1, the s...

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Veröffentlicht in:	Annals of neurology 2004-02, Vol.55 (2), p.213-220
Hauptverfasser:	Denier, Christian, Labauge, Pierre, Brunereau, Laurent, Cavé-Riant, Florence, Marchelli, Florence, Arnoult, Minh, Cecillon, Michaelle, Maciazek, Jacqueline, Joutel, Anne, Tournier-Lasserve, Elisabeth
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Biological and medical sciences Brain - pathology Cerebral Hemorrhage - etiology Child Child, Preschool Female Hemangioma, Cavernous, Central Nervous System - complications Hemangioma, Cavernous, Central Nervous System - genetics Hemangioma, Cavernous, Central Nervous System - pathology Heterozygote Humans Infant KRIT1 Protein Magnetic Resonance Imaging Male Medical sciences Microtubule-Associated Proteins - genetics Middle Aged Mutation Neurology Pedigree Penetrance Polymorphism, Single-Stranded Conformational Proto-Oncogene Proteins - genetics Seizures - etiology Sex Factors
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