{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:09:55Z","timestamp":1790226595426,"version":"4.1.0"},"reference-count":55,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:p>Recent next-generation DNA and RNA sequencing studies of congenital and pediatric cerebrovascular anomalies such as moyamoya disease, arteriovenous malformations, vein of Galen malformations, and cavernous malformations have shed new insight into the genetic regulation of human cerebrovascular development by implicating multiple novel disease genes and signaling pathways in the pathogenesis of these disorders. These diseases are now beginning to be categorized by molecular disruptions in canonical signaling pathways that impact the differentiation and proliferation of specific venous, capillary, or arterial cells during the hierarchical development of the cerebrovascular system. Here, the authors discuss how the continued study of these and other congenital cerebrovascular conditions has the potential to replace the current antiquated, anatomically based disease classification systems with a molecular taxonomy that has the potential to increase precision in genetic counseling, prognostication, and neurosurgical and endovascular treatment stratification. Importantly, the authors also discuss how molecular genetic data are already informing clinical trials and catalyzing the development of targeted therapies for these conditions historically considered as exclusively neurosurgical lesions.<\/jats:p>","DOI":"10.3171\/2022.12.peds22332","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T12:00:00Z","timestamp":1673006400000},"page":"228-237","source":"Crossref","is-referenced-by-count":17,"title":["Increasing precision in the management of pediatric neurosurgical cerebrovascular diseases with molecular genetics"],"prefix":"10.3171","volume":"31","author":[{"given":"Kristopher T.","family":"Kahle","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston;"},{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Harvard Medical School, Boston;"},{"name":"Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston;"},{"name":"Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Duran","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Mississippi Medical Center, Jackson, Mississippi"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward R.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Boston Children\u2019s Hospital, Harvard Medical School, Boston;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"12","key":"b1","series-title":"Stroke","first-page":"2794","article-title":"A population-based study of brain arteriovenous malformation: long-term treatment outcomes","volume":"33","author":"ApSimon HT","year":"2002","unstructured":"ApSimon HT, Reef H, Phadke RV, Popovic EA. 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