PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

@inproceedings{Cigoli2014PDCD10GM,
  title={PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations},
  author={Maria Sole Cigoli and Francesca Avemaria and Stefano De Benedetti and Giovanni Pietro Gesu and Lucio Giordano Accorsi and Stefano Parmigiani and Maria Franca Corona and Valeria Capra and Adriana Mosca and Simona Giovannini and Francesca Notturno and Fausta Ciccocioppo and Lilia Volpi and Margherita Estienne and Giuseppe De Michele and Antonella Antenora and Leda Bilo and Antonietta Tavoni and Nelia Zamponi and Enrico Alfei and Giovanni Baranello and D Riva and Silvana Penco},
  booktitle={PloS one},
  year={2014}
}
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of… CONTINUE READING
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