A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

Georg Christoph Korenke 1, Björn Schulte 2 3, Saskia Biskup 2 3, John Neidhardt 4 5 6 7, Marta Owczarek-Lipska 4
  1. Department of Neuropediatrics, University Children’s Hospital, Klinikum Oldenburg, Oldenburg, Germany.
  2. Praxis für Humangenetik, Tübingen, Germany.
  3. Center for Genomics and Transcriptomics, CeGaT GmbH, Tübingen, Germany.
  4. Human Genetics, Faculty VI – School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
  5. Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.
  6. Joint Research Training Group of the Faculty VI – School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany, and University Medical Center Groningen, Groningen, The Netherlands.
  7. Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI – School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.