Article
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Genetics - 1 Dec 2017
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
Abstract excerpt
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, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years...
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