Anaïs Begemann

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1 Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland 2Mehiläinen Clinic, Vantaa, Finland 3Department of Clinical Genetics, Helsinki University Central Hospital and Department of Medical Genetics, University of Helsinki, Helsinki, Finland 4National Institute for Health and Welfare, Helsinki, Finland 5Radiz–Rare Disease(More)
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(More)
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