Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

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.