Associated Papers
Case Report: Cerebral folate deficiency caused by FOLR1 variant.
Wang Q et al.
Frontiers in Pediatrics, 2024
39328591 (PubMed )
Supplement: Table1.pdf
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A et al.
Orphanet Journal of Rare Diseases, 2023
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
Mafi S et al.
Brain Sciences, 2020
Select a paper to view details