Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Diseas...
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
About this item
Full title
Author / Creator
Publisher
MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
MDPI AG
Subjects
More information
Scope and Contents
Contents
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 receptor 1 gene (FOLR1) encoding the receptor of folat...
Alternative Titles
Full title
Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2fe1ad4b6fc94ff9900d767627665a25
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2fe1ad4b6fc94ff9900d767627665a25
Other Identifiers
ISSN
2076-3425
E-ISSN
2076-3425
DOI
10.3390/brainsci10110762
