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

Published: 15 Jul 2021
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Ketogenic diet could be considered in cases of drug resistant epilepsy related to CFD-FOLR1 disorder as an add-on treatment to antiepileptic medication and/or to folinic acid. Early folinic acid administration represents a diseasemodifying treatment. Lowering of MTHF in CSF is age-specific and may be mild to moderate, especially in younger patients and at early stages of the disease.

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