Genetics of brain arteriovenous malformations and cerebral cavernous malformations
Genetics of brain arteriovenous malformations and cerebral cavernous malformations
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DOI：
10.1038/s10038-022-01063-8
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发表时间：
2022-07
影响因子：
3.5
通讯作者：
Hiroki Hongo;S. Miyawaki;Y. Teranishi;Daiichiro Ishigami;Kenta Ohara;Yu Sakai;Daisuke Shimada;
中科院分区：
文献类型：
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作者：
Hiroki Hongo;S. Miyawaki;Y. Teranishi;Daiichiro Ishigami;Kenta Ohara;Yu Sakai;Daisuke Shimada;
脑血管畸形包括脑血管的异常发育。它们可导致出血性中风，原因是损伤破裂以及癫痫发作和神经缺陷。脑血管畸形最常见的形式是脑动静脉畸形（bAVM）和脑海绵状血管畸形（CCM）。它们以散发和遗传的形式发生。快速发展的分子遗传学方法有助于确定bAVM和CCM发生中涉及的致病或相关基因。在这篇综述中，我们强调了目前的知识，这些畸形的遗传基础。
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.