| 1 | EIEE40, GUF1 |
| West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. | |
| Alfaiz AA, Müller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A. | |
| Eur J Hum Genet 24(7):1001-8. doi: 10.1038/ejhg.2015.227. 2016 | |