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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Dades bibliogràfiques
Publicat a:Brain Sci
Autors principals: 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
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Case Report
Accés en línia: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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