Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079.

Snezana Maljevic ¹, Boris Keren ², Ye Htet Aung ¹, Ian C Forster ¹, Cyril Mignot ² ³, Julien Buratti ², Aurélie Lafitte ², Cécile Freihuber ⁴, Lance H Rodan ⁵ ⁶, Ann Bergin ⁷, Laurence Hubert ⁸, Karine Poirier ⁸, Arnold Munnich ⁸, Claude Besmond ⁸, Natalie Hauser ⁹, Rebecca Miller ⁹, Kirsty McWalter ¹⁰, Rima Nabbout ¹¹, Delphine Héron ², Eric Leguern ² ³, Christel Depienne ³ ¹², Steven Petrou ¹, Caroline Nava ² ³

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

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