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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
Boemer, François; Josse, Claire; Luis, Géraldine; Di Valentin, Emmanuel; Thiry, Jérôme; Cello, Christophe; Caberg, Jean-Hubert; Dadoumont, Caroline; Harvengt, Julie; Lumaka, Aimé; Bours, Vincent; Debray, François-Guillaume.
Affiliation
  • Boemer F; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Josse C; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Luis G; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
  • Di Valentin E; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Thiry J; Viral Vector Platform, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
  • Cello C; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Caberg JH; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Dadoumont C; Molecular Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Harvengt J; Department of Pediatrics, CHC MontLégia, 4000 Liege, Belgium.
  • Lumaka A; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
  • Bours V; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
  • Debray FG; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Int J Mol Sci ; 23(4)2022 Feb 18.
Article in En | MEDLINE | ID: mdl-35216372
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Brain Diseases / Epilepsy, Generalized / Loss of Function Mutation / Amino Acids, Branched-Chain Type of study: Etiology_studies / Observational_studies Limits: Female / Humans / Male Language: En Journal: Int J Mol Sci Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Brain Diseases / Epilepsy, Generalized / Loss of Function Mutation / Amino Acids, Branched-Chain Type of study: Etiology_studies / Observational_studies Limits: Female / Humans / Male Language: En Journal: Int J Mol Sci Year: 2022 Document type: Article