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Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

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Title: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Authors: Maljevic S; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia., Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France., Aung YH; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia., Forster IC; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Buratti J; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France., Lafitte A; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France., Freihuber C; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Bergin A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Hubert L; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France., Poirier K; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France., Munnich A; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France., Besmond C; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France., Hauser N; Inova Health System, Inova Translational Medicine Institute, Falls Church, VA, USA., Miller R; Inova Health System, Inova Translational Medicine Institute, Falls Church, VA, USA., McWalter K; GeneDx, Gaithersburg, Maryland, USA., Nabbout R; APHP, Hôpital Necker Enfants Malades, Centre de référence épilepsies rares, Service de Neurologie pédiatrique, Paris, France., Héron D; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France., Leguern E; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Depienne C; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Petrou S; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia., Nava C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
Source: Brain : a journal of neurology [Brain] 2019 May 01; Vol. 142 (5), pp. e15.
Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
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  Data: <searchLink fieldCode="AU" term="%22Maljevic+S%22">Maljevic S</searchLink>; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.<br /><searchLink fieldCode="AU" term="%22Aung+YH%22">Aung YH</searchLink>; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Forster+IC%22">Forster IC</searchLink>; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.<br /><searchLink fieldCode="AU" term="%22Lafitte+A%22">Lafitte A</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.<br /><searchLink fieldCode="AU" term="%22Freihuber+C%22">Freihuber C</searchLink>; AP-HP, Hôpital Trousseau, Service de Neuropédiatrie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rodan+LH%22">Rodan LH</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bergin+A%22">Bergin A</searchLink>; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hubert+L%22">Hubert L</searchLink>; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Poirier+K%22">Poirier K</searchLink>; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Munnich+A%22">Munnich A</searchLink>; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Besmond+C%22">Besmond C</searchLink>; INSERM UMR 1163, Translational Genetics Lab., Paris-Descartes University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hauser+N%22">Hauser N</searchLink>; Inova Health System, Inova Translational Medicine Institute, Falls Church, VA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+R%22">Miller R</searchLink>; Inova Health System, Inova Translational Medicine Institute, Falls Church, VA, USA.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Nabbout+R%22">Nabbout R</searchLink>; APHP, Hôpital Necker Enfants Malades, Centre de référence épilepsies rares, Service de Neurologie pédiatrique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+D%22">Héron D</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.<br /><searchLink fieldCode="AU" term="%22Leguern+E%22">Leguern E</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Petrou+S%22">Petrou S</searchLink>; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC «Déficience Intellectuelle et Autisme», Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
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