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Article

Diagnosis and management of cerebral folate deficiency: A form of folinic acid-responsive seizures

1 Jan 2014

Abstract excerpt

Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenting with seizures at a later age, and with folate deficiency due to different mechanisms with variable response to...

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PMID: 25274592
DOI: 10.17712/1658-3183.2101

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