Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B Mills, Emma J Footitt, Kevin A Mills, Karin Tuschl, Sarah Aylett, Sophia Varadkar, Cheryl Hemingway, Neil Marlow, Janet Rennie, Peter Baxter, Olivier Dulac, Rima Nabbout, William J Craigen, Bernhard Schmitt, François Feillet, Ernst Christensen, Pascale De Lonlay, Mike G Pike, M Imelda Hughes, Eduard A StruysCornelis Jakobs, Sameer M Zuberi, Peter T Clayton