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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Spremljeno u:
Bibliografski detalji
Izdano u:Brain Sci
Glavni autori: Mafi, Sarah, Laroche-Raynaud, Cécile, Chazelas, Pauline, Lia, Anne-Sophie, Derouault, Paco, Sturtz, Franck, Baaj, Yasser, Froget, Rachel, Rio, Marlène, Benoist, Jean-François, Poumeaud, François, Favreau, Frédéric, Faye, Pierre-Antoine
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690394/
https://ncbi.nlm.nih.gov/pubmed/33105619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci10110762
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