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...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2017-01, Vol.140 (1), p.49-67
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Drug Resistant Epilepsy - genetics Drug Resistant Epilepsy - physiopathology Electrophysiological Phenomena Epilepsy - genetics Epilepsy - physiopathology Exome Female HEK293 Cells Humans Male Mutation Original Patch-Clamp Techniques Phenotype Receptors, GABA-A - genetics
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