Case Report: Cerebral folate deficiency caused by FOLR1 variant
This report illustrates that CFD was caused by <i>FOLR1</i> variants in two siblings. They had intractable epilepsy, developmental regression, and ataxia, and a diagnosis of CFD was confirmed by a c.148G>A (p.Glu50Lys) variant in <i>FOLR1</i>, a new pathogenic variant in <i>FOLR1</i>. Early diagnosis is essential and can improve outcomes in affected patients.
Authors
- Qianhui Wen
- Rong Luo (ORCID: https://orcid.org/0000-0003-2725-9939)
- Chunmei Yu
- Yao Deng
- Jie Yang (ORCID: https://orcid.org/0000-0003-0423-4157)
- Hua Yang
- Hao Liu (ORCID: https://orcid.org/0009-0004-2137-0892)
- Qian Wang (ORCID: https://orcid.org/0000-0002-6052-9665)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-09-12
- DOI
- https://doi.org/10.3389/fped.2024.1434209
- Citations
- 4
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 1.88