Title : Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

Pub. Date : 2019 Nov

PMID : 31741821






1 Functional Relationships(s)
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1 Vitamin B6-responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Vitamin B 6 aldehyde dehydrogenase 7 family member A1 Homo sapiens