Article
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Journal of medical genetics - 1 Dec 2017
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
Abstract excerpt
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...
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