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Review
. 2023 Mar;68(3):157-167.
doi: 10.1038/s10038-022-01063-8. Epub 2022 Jul 13.

Genetics of brain arteriovenous malformations and cerebral cavernous malformations

Hiroki Hongo  1 , Satoru Miyawaki  2 , Yu Teranishi  1 , Daiichiro Ishigami  1 , Kenta Ohara  1 , Yu Sakai  1 , Daisuke Shimada  3 , Motoyuki Umekawa  1 , Satoshi Koizumi  1 , Hideaki Ono  4 , Hirofumi Nakatomi  3 , Nobuhito Saito  1
Affiliations
Review

Genetics of brain arteriovenous malformations and cerebral cavernous malformations

Hiroki Hongo et al. J Hum Genet. 2023 Mar.

Abstract

Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.

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