A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy
Authors
Georg Christoph Korenke 1, Björn Schulte 2 3, Saskia Biskup 2 3, John Neidhardt 4 5 6 7, Marta Owczarek-Lipska 4
- Department of Neuropediatrics, University Children’s Hospital, Klinikum Oldenburg, Oldenburg, Germany.
- Praxis für Humangenetik, Tübingen, Germany.
- Center for Genomics and Transcriptomics, CeGaT GmbH, Tübingen, Germany.
- Human Genetics, Faculty VI – School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
- Research Center Neurosensory Science, University of Oldenburg, Oldenburg, Germany.
- 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.
- Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI – School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.