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Article

Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.

Journal of neurosurgery. Pediatrics - 1 Jan 2022

Hara Shoko, Mukawa Maki, Akagawa Hiroyuki, Thamamongood Thiparpa, Inaji Motoki, Tanaka Yoji, Maehara Taketoshi, Kasuya Hidetoshi, Nariai Tadashi

Abstract excerpt

OBJECTIVE: The authors' objective was to investigate the influence of the RNF213 p.R4810K variant on the clinical presentation and outcomes of Japanese pediatric patients with moyamoya disease. METHODS: A total of 129 Japanese patients with pediatric-onset moyamoya disease (onset age ≤ 15 years) who visited the authors' department from 2012 to 2020 participated in this study. After RNF213 p.R4810K genotyping of...

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Identifiers

PMID: 34624841
DOI: 10.3171/2021.7.PEDS21250

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