Somatic<i>PIK3CA</i>Mutations in Sporadic Cerebral Cavernous Malformations

Somatic<i>PIK3CA</i>Mutations in Sporadic Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), CCM2, or PDCD10 (CCM3), the genetic cause of sporadic CCMs, representing 80% of cases, rema...

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Main Authors: Matthieu Peyre, Danielle Miyagishima, Franck Bielle, Françoise Chapon, Michael C. Sierant, Quitterie Venot, Julie Lerond, Pauline Marijon, Samiya Abi-Jaoude, Tuan Le Van, Karim Labrèche, Richard S. Houlston, Maxime Faisant, Stéphane Clémenceau, Anne‐Laure Boch, Aurélien Nouet, Alexandre Carpentier, Julien Boetto, Angeliki Louvi, Michel Kalamarides
Format: Artigo
Language:English
Published: 2021
Online Access:https://doi.org/10.1056/nejmoa2100440
https://www.nejm.org/doi/pdf/10.1056/NEJMoa2100440?articleTools=true
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https://doi.org/10.1056/nejmoa2100440
https://www.nejm.org/doi/pdf/10.1056/NEJMoa2100440?articleTools=true

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