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
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S et al.
Acta Neurologica Belgica, 2023
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Juliá-Palacios N et al.
Developmental Medicine and Child Neurology, 2022
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S et al.
American Journal of Medical Genetics. Part A, 2021
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.
Karin I et al.
Journal of Neurology, 2017
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
Ortigoza Escobar JD et al.
Seminars in Pediatric Neurology, 2016
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
Grapp M et al.
Brain : a Journal of Neurology, 2012
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.
Pérez-Dueñas B et al.
Journal of Inherited Metabolic Disease, 2010
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