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

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

Abstract 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...

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Bibliographic Details
Main Authors: Maria T. Papadopoulou, Efterpi Dalpa, Michalis Portokalas, Irene Katsanika, Katerina Tirothoulaki, Martha Spilioti, Spyros Gerou, Barbara Plecko, Athanasios E. Evangeliou
Format: Article
Language:English
Published: Wiley 2021-07-01
Series:JIMD Reports
Subjects:
cerebral folate deficiency
epileptic spasms
folinic acid
FORL1
FRa
ketogenic diet
Online Access:https://doi.org/10.1002/jmd2.12206

Internet

https://doi.org/10.1002/jmd2.12206

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