De novo GABRG2 mutations associated with epileptic encephalopathies

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 transmissio...

詳細記述

保存先:
書誌詳細
出版年:Brain
主要な著者: Shen, Dingding, Hernandez, Ciria C, Shen, Wangzhen, Hu, Ningning, Poduri, Annapurna, Shiedley, Beth, Rotenberg, Alex, Datta, Alexandre N, Leiz, Steffen, Patzer, Steffi, Boor, Rainer, Ramsey, Kerri, Goldberg, Ethan, Helbig, Ingo, Ortiz-Gonzalez, Xilma R, Lemke, Johannes R, Marsh, Eric D, Macdonald, Robert L
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2017
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226060/
https://ncbi.nlm.nih.gov/pubmed/27864268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww272
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