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

P. B Mills, E. J Footitt, K. A Mills, K Tuschl, S Aylett, S Varadkar, C Hemingway, N Marlow, J Rennie, P Baxter, O Dulac, R Nabbout, W. J Craigen, B Schmitt, F Feillet, E Christensen, P De Lonlay, M. G Pike, M. I Hughes, E. A Struys, C Jakobs, S. M Zuberi and P. T. Clayton

Brain 133 ( 7 ): 2148 - 2159 , 2010