Blended Phenotype of <i>NOTCH3</i> and <i>RNF213</i> Variants With Accelerated Large and Small Artery Crosstalk
Temporal pole infarcts could represent a blended phenotype of both variants. This case highlights the importance of large and small artery crosstalk and the pivotal role of genetic analysis in determining the pathogenesis of stroke and dementia.
Authors
- Yi‐Chu Liao (ORCID: https://orcid.org/0000-0002-9644-2086)
- Toshiki Mizuno (ORCID: https://orcid.org/0000-0002-7907-8243)
- Eriko Yamaguchi
- Ikuko Mizuta (ORCID: https://orcid.org/0000-0002-2775-2507)
- Satoshi Hosoki (ORCID: https://orcid.org/0000-0002-4241-3677)
- Masafumi Ihara (ORCID: https://orcid.org/0000-0002-7102-4048)
- Yorito Hattori (ORCID: https://orcid.org/0000-0002-1495-4433)
- Tomotaka Tanaka (ORCID: https://orcid.org/0000-0002-6023-236X)
- Hiroyuki Ishiyama (ORCID: https://orcid.org/0000-0003-0071-7338)
- Soichiro Abe (ORCID: https://orcid.org/0000-0001-9528-8702)
- Yi‐Chung Lee (ORCID: https://orcid.org/0000-0003-0102-164X)
- Satoshi Saitô (ORCID: https://orcid.org/0000-0001-8608-058X)
- Takeshi Yoshimoto (ORCID: https://orcid.org/0000-0003-3178-8171)
Institutions
- Kyoto Prefectural University of Medicine (JP)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-09-06
- DOI
- https://doi.org/10.1212/nxg.0000000000200176
- Citations
- 5
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.85
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science