Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ). ATQ is one of the enzymes involved in lysine oxidation; thus, its deficiency lead...

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Detalles Bibliográficos
Autores principales: Kaminiów, Konrad, Pająk, Magdalena, Pająk, Renata, Paprocka, Justyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773593/
https://www.ncbi.nlm.nih.gov/pubmed/35053812
http://dx.doi.org/10.3390/brainsci12010065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773593/
https://www.ncbi.nlm.nih.gov/pubmed/35053812
http://dx.doi.org/10.3390/brainsci12010065

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