Alex Rotenberg

Boston Children's Hospital

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Xilma R. Ortiz‐González

Children's Hospital of Philadelphia

Kerri Ramsey

Translational Genomics Research Institute

Annapurna Poduri

Boston Children's Hospital

Johannes R. Lemke

Leipzig University

Ningning Hu

Vanderbilt University Medical Center

Rainer Boor

Kiel University

Eric D. Marsh

Children's Hospital of Philadelphia

Robert L. Macdonald

Google (United States)

Steffi Patzer

Krankenhaus St. Elisabeth und St. Barbara

Dingding Shen

Affiliated Hospital of Nantong University

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Vanderbilt University

Vanderbilt University Medical Center

Children's Hospital of Philadelphia

University of Pennsylvania

Heidelberg University

Neurology, Inc

Philadelphia University

Meharry Medical College

Boston Children's Hospital

University Hospital Heidelberg

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De novo GABRG2mutations associated with epileptic encephalopathies

Brain (2016)

Dingding Shen Ciria C. Hernández Wangzhen Shen Ningning Hu Annapurna Poduri

Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes. Many epileptic encephalopathies have a genetic aetiology and are often associated with de novo mutations in genes mediating synaptic transmission, including GABA

Epilepsy syndromes

10.1093/brain/aww272

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