Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with developmental delay, seizures, abnormal movements, and delayed m...

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Detalles Bibliográficos
Autores principales: Papadopoulou, Maria T., Dalpa, Efterpi, Portokalas, Michalis, Katsanika, Irene, Tirothoulaki, Katerina, Spilioti, Martha, Gerou, Spyros, Plecko, Barbara, Evangeliou, Athanasios E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260484/
https://www.ncbi.nlm.nih.gov/pubmed/34258135
http://dx.doi.org/10.1002/jmd2.12206

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260484/
https://www.ncbi.nlm.nih.gov/pubmed/34258135
http://dx.doi.org/10.1002/jmd2.12206

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