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 - Jimid Report - Cerebral folate deficiency
Download resource

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
Views: 5104  •  Downloads: 1696

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.
Reactions (0)
Like

0

Love

0

Happy

0

Sad

0

Insightful

0

Comments / thoughts (0)
Add a comment

You must be logged in to leave a comment. Sign in or register now.

Category
Diet and Nutrition Epilepsy facts General General Epilepsy Ketogenic Diet Epilepsy
Other resources from this contributor
Serial correlation between saliva and blood betahydroxybutyrate levels in children commencing the ketogenic diet for epilepsy -

Serial correlation between saliva and blood betahydroxybutyrate levels in children commencing the ketogenic diet for epilepsy

395 views • 5 months ago
Exploring the effect of valproic acid levels on patients with epilepsy treated with ketogenic diet: An observational study -

Exploring the effect of valproic acid levels on patients with epilepsy treated with ketogenic diet: An observational study

471 views • 8 months ago
Effectiveness and safety analysis of ketogenic diet therapy for drug-resistant epilepsy caused by structural pathology -

Effectiveness and safety analysis of ketogenic diet therapy for drug-resistant epilepsy caused by structural pathology

609 views • 11 months ago
The gut microbiome and epilepsy -

The gut microbiome and epilepsy

1811 views • 2 years ago
Related resources
Efficacy and safety of ketogenic dietary therapies in infancy. A single-centre experience in 42 infants less than two years of age - Efficacy and safety of ketogenic dietary therapies in infancy

Efficacy and safety of ketogenic dietary therapies in infancy. A single-centre experience in 42 infants less than two years of age

5881 views • 4 years ago
Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation - Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation

Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation

6931 views • 4 years ago
Ketogenic diet exhibits anti‐inflammatory properties - Ketogenic Foods - Salmon, Eggs, Butter, Creme

Ketogenic diet exhibits anti‐inflammatory properties

8949 views • 5 years ago
1
Stress as a seizure precipitant - Stress as a seizure precipitant

Stress as a seizure precipitant

4197 views • 4 years ago
Share