Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5′-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopme...

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Enregistré dans:
Détails bibliographiques
Publié dans:Genetics
Auteurs principaux: Pena, Izabella A., Roussel, Yann, Daniel, Kate, Mongeon, Kevin, Johnstone, Devon, Weinschutz Mendes, Hellen, Bosma, Marjolein, Saxena, Vishal, Lepage, Nathalie, Chakraborty, Pranesh, Dyment, David A., van Karnebeek, Clara D. M., Verhoeven-Duif, Nanda, Bui, Tuan Vu, Boycott, Kym M., Ekker, Marc, MacKenzie, Alex
Format: Artigo
Langue:Inglês
Publié: Genetics Society of America 2017
Sujets:
Investigations
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5714462/
https://ncbi.nlm.nih.gov/pubmed/29061647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.117.300137
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