Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

被引：11

作者：

Maljevic, Snezana ^{[1
]}

Keren, Boris ^{[2
]}

Aung, Ye Htet ^{[1
]}

Forster, Ian C. ^{[1
]}

Mignot, Cyril ^{[2
,3
]}

Buratti, Julien ^{[2
]}

Lafitte, Aurelie ^{[2
]}

Freihuber, Cecile ^{[4
]}

Rodan, Lance H. ^{[5
,6
]}

Bergin, Ann ^{[7
]}

Hubert, Laurence ^{[8
]}

Poirier, Karine ^{[8
]}

Munnich, Arnold ^{[8
]}

Besmond, Claude ^{[8
]}

Hauser, Natalie ^{[9
]}

Miller, Rebecca ^{[9
]}

McWalter, Kirsty ^{[10
]}

Nabbout, Rima ^{[11
]}

Heron, Delphine ^{[2
]}

Leguern, Eric ^{[2
,3
]}

Depienne, Christel ^{[3
,12
]}

Petrou, Steven ^{[1
]}

Nava, Caroline ^{[2
,3
]}

机构：

[1] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia

[2] Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France

[3] Sorbonne Univ, Inst Cerveau & Moelle Epiniere, ICM, INSERM,U1127,CNRS,UMR 7225, F-75013 Paris, France

[4] Hop Trousseau, AP HP, Serv Neuropediat, Paris, France

[5] Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

[6] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[7] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA

[8] Paris Descartes Univ, Translat Genet Lab, Imagine Inst, INSERM,UMR 1163, Paris, France

[9] Inova Translat Med Inst, Inova Hlth Syst, Falls Church, VA USA

[10] GeneDx, Gaithersburg, MD USA

[11] Hop Necker Enfants Malad, AP HP, Ctr Reference Epilesies Rares, Serv Neurol Pediat, Paris, France

[12] Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany

来源：

BRAIN | 2019年 / 142卷

基金：

英国医学研究理事会;

关键词：

DE-NOVO MUTATIONS; GABA(A) RECEPTORS; GENERALIZED EPILEPSIES; PHENOTYPIC SPECTRUM; ABSENCE EPILEPSY; GAMMA-2-SUBUNIT; DIVERSITY; SUBTYPES;

D O I：

10.1093/brain/awz079

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：6

共 50 条

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Jenkins, Andrew
Escayg, Andrew
[J]. BRAIN, 2019, 142
[2] PURA MUTATIONS: INTELLECTUAL DISABILITY WITH SEIZURES OR EPILEPTIC ENCEPHALOPATHY?
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Radtke, K.
Brilstra, E.
Tang, S.
Grebe, T.
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Smith, W.
Bick, D.
[J]. EPILEPSIA, 2016, 57 : 124 - 124
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