Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
- Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079.
Affiliations
- 1. The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
- 2. APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.
- 3. Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
- 4. AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.
- 5. Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
- 6. Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
- 7. Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
- 8. INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France.
- 9. Inova Health System, Inova Translational Medicine Institute, Falls Church, VA, USA.
- 10. GeneDx, Gaithersburg, Maryland, USA.
- 11. APHP, Hôpital Necker Enfants Malades, Centre de référence épilepsies rares, Service de Neurologie pédiatrique, Paris, France.
- 12. Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
PMID: 31032849
DOI: 10.1093/brain/awz079