Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

Snezana Maljevic¹, Boris Keren², Ye Htet Aung¹, Ian C Forster¹, Cyril Mignot^{2

3}, Julien Buratti², Aurélie Lafitte², Cécile Freihuber⁴, Lance H Rodan^{5

6}, Ann Bergin⁷, Laurence Hubert⁸, Karine Poirier⁸, Arnold Munnich⁸, Claude Besmond⁸, Natalie Hauser⁹, Rebecca Miller⁹, Kirsty McWalter¹⁰, Rima Nabbout¹¹, Delphine Héron², Eric Leguern^{2

3}, Christel Depienne^{3

12}, Steven Petrou¹, 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.

Comment

Snezana Maljevic et al. Brain. 2019.

. 2019 May 1;142(5):e15.

doi: 10.1093/brain/awz079.

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.

No abstract available

Comment in

Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Jenkins A, Escayg A. Jenkins A, et al. Brain. 2019 May 1;142(5):e16. doi: 10.1093/brain/awz086. Brain. 2019. PMID: 31032848 No abstract available.

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A. Butler KM, et al. Brain. 2018 Aug 1;141(8):2392-2405. doi: 10.1093/brain/awy171. Brain. 2018. PMID: 29961870 Free PMC article.