![Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy]()
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent EpilepsyDarin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; El Yacoubi, Basma; Footitt, Emma; Chong, W.K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crécy-Lagard, Valérie; Mills, Philippa B.; Clayton, Peter T. · The American Journal of Human Genetics · 2016