Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

Cerebral folate deficiency (CFD) is a neurological disorder characterized by low levels of 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid (CSF). The prevalence of this autosomal recessive disorder is estimated to be <1/1,000,000. Fifteen different pathogenic variants in the folate r...

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Bibliographic Details
Main Authors: Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Brain Sciences
Subjects:
cerebral folate deficiency
<i>FOLR1</i> variant
neurodegenerative disorder
epilepsy
FRα protein crystallographic structure
pediatric
Online Access:https://www.mdpi.com/2076-3425/10/11/762

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https://www.mdpi.com/2076-3425/10/11/762

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