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-Reference-Cited by-同舟云学术

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

Published:2021-05-19 Issue:8 Volume:185 Page:2526-2531
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Brunetti Sara¹^ORCID,Malerba Laura¹,Giordano Lucio¹^ORCID,Parrini Elena²,Guerrini Renzo²,Palumbo Giovanni³,Parazzini Cecilia⁴,Bestetti Ilaria⁵⁶,Accorsi Patrizia¹

Affiliation:

1. Child and Adolescent Neurology and Psychiatry Unit, Children Hospital ASST Spedali Civili of Brescia Brescia Italy

2. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Centre, A. Meyer Children's Hospital University of Florence Florence Italy

3. Neuroradiology Department University of Brescia Brescia Italy

4. Pediatric radiology and neuroradiology Department Children's Hospital V. Buzzi Milan Italy

5. Research Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano Milan Italy

6. Department of Medical Biotechnology and Translational Medicine University of Milan Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62345

Reference13 articles.

1. CONGENITAL NULL MUTATIONS OF THE FOLR1 GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

2. G-protein genomic association with normal variation in gray matter density

3. A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome

4. Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation

5. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Classical imaging in cerebral folate transport deficiency;Case Reports in Clinical Radiology;2023-11-02

2. 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;Orphanet Journal of Rare Diseases;2023-07-13

3. Genetic diagnostics in epilepsies: recommendations of the Commission Epilepsy and Genetics of German Society of Epileptology (German ILAE Chapter);Clinical Epileptology;2023-04-20

4. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder;Neurological Sciences;2023-02-28

5. Successful Treatment of Cerebral Folate Transporter Deficiency With Intravenous Folinic Acid;Pediatric Neurology;2022-10