Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

Abstract

Cavernous malformations are vascular anomalies that can cause severe neurological deficits, seizures and hemorrhagic stroke if these lesions are located in the brain. In patients with cavernomas, constitutional mutations of the KRIT1 gene have been identified. The pathogenetic mechanisms leading to cerebral cavernous malformations (CCM) development are… (More)
DOI: 10.1007/s00401-002-0552-6

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