Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy

Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita

doi:10.5167/uzh-138782

Citations

Citation copied

Plecko, B., Zweier, M., Begemann, A., Mathis, D., Schmitt, B., Striano, P., Baethmann, M., Vari, M. S., Beccaria, F., Zara, F., Crowther, L. M., Joset, P., Sticht, H., Papuc, S. M., & Rauch, A. (2017). Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy. Journal of Medical Genetics, 54, 809–814. https://doi.org/10.1136/jmedgenet-2017-104521

Abstract

Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four further unrelated patients harbouring a total of six different mutations, including four novel disease mutations. Vitamin B6 plasma profiles on pyridoxine did not enable the differentiation of pat