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CAD mutations and uridine-responsive epileptic encephalopathy.
Koch, Johannes; Mayr, Johannes A; Alhaddad, Bader; Rauscher, Christian; Bierau, Jörgen; Kovacs-Nagy, Reka; Coene, Karlien L M; Bader, Ingrid; Holzhacker, Monika; Prokisch, Holger; Venselaar, Hanka; Wevers, Ron A; Distelmaier, Felix; Polster, Tilman; Leiz, Steffen; Betzler, Cornelia; Strom, Tim M; Sperl, Wolfgang; Meitinger, Thomas; Wortmann, Saskia B; Haack, Tobias B.
Affiliation
  • Koch J; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Mayr JA; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria j.koch@salk.at tobias.haack@med.uni-tuebingen.de.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Rauscher C; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Coene KL; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboudumc Nijmegen, The Netherlands.
  • Bader I; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboudumc Nijmegen, The Netherlands.
  • Holzhacker M; Clinical Laboratory, Catharina Hospital Eindhoven, Eindhoven, The Netherlands.
  • Prokisch H; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Venselaar H; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Wevers RA; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Distelmaier F; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Polster T; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboudumc Nijmegen, The Netherlands.
  • Leiz S; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboudumc Nijmegen, The Netherlands.
  • Betzler C; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
  • Strom TM; Department of Paediatric Epileptology, Mara Hospital, Bethel Epilepsy Center, Bielefeld, Germany.
  • Sperl W; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Meitinger T; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Haack TB; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Brain ; 140(2): 279-286, 2017 02.
Article in En | MEDLINE | ID: mdl-28007989
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate Carbamoyltransferase / Spasms, Infantile / Uridine / Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Dihydroorotase / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2017 Document type: Article Affiliation country: Austria Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate Carbamoyltransferase / Spasms, Infantile / Uridine / Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Dihydroorotase / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Brain Year: 2017 Document type: Article Affiliation country: Austria Country of publication: United kingdom