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

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 presenti...

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Detalles Bibliográficos
Autores principales: Al-Baradie, Raidah S., Chudary, Mohammed W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727671/
https://www.ncbi.nlm.nih.gov/pubmed/25274592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727671/
https://www.ncbi.nlm.nih.gov/pubmed/25274592

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