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Neurogenetics
Short report
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy

Authors

  • Barbara Plecko Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland radiz – “Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich”, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Markus Zweier Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Anaïs Begemann radiz – “Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich”, University of Zurich, Zurich, Switzerland Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Deborah Mathis Clinical Chemistry, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Bernhard Schmitt Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Pasquale Striano Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, G. Gaslini Institute, Genova, Italy PubMed articlesGoogle scholar articles
  • Martina Baethmann Sozialpädiatrisches Zentrum, Dritter Orden, München-Nymphenburg, Munich, Germany PubMed articlesGoogle scholar articles
  • Maria Stella Vari Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, G. Gaslini Institute, Genova, Italy PubMed articlesGoogle scholar articles
  • Francesca Beccaria Child Neuropsychiatry, C. Poma Hospital, Mantova, Italy PubMed articlesGoogle scholar articles
  • Federico Zara IRCCS, University of Genova, G. Gaslini Institute, Genova, Italy PubMed articlesGoogle scholar articles
  • Lisa M Crowther Division of Child Neurology, University Children’s Hospital Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Pascal Joset Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Heinrich Sticht Institute of Biochemistry, University of Erlangen-Nuernberg, Erlangen, Germany PubMed articlesGoogle scholar articles
  • Sorina Mihaela Papuc radiz – “Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich”, University of Zurich, Zurich, Switzerland Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  • Anita Rauch radiz – “Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich”, University of Zurich, Zurich, Switzerland Institute of Medical Genetics, University of Zurich, Zurich, Switzerland PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Barbara Plecko, Division of Child Neurology, University Children’s Hospital, Steinwiesstrasse 75, 8032 Zurich; Barbara.Plecko{at}kispi.uzh.ch
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Citation

Plecko B, Zweier M, Begemann A, et al
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
Journal of Medical Genetics 2017;54:809-814.

Publication history

  • Received January 10, 2017
  • Revised March 1, 2017
  • Accepted March 1, 2017
  • First published April 8, 2017.
Online issue publication 
November 23, 2017

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.