GABAA Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

GABA A receptors are brain inhibitory chloride ion channels. Here we show functional analyses and structural simulations for three de novo missense mutations in the GABA A receptor β3 subunit gene ( GABRB3 ) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound develop...

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Veröffentlicht in:	Scientific reports 2017-11, Vol.7 (1)
Hauptverfasser:	Hernandez, Ciria C., Zhang, Yujia, Hu, Ningning, Shen, Dingding, Shen, Wangzhen, Liu, Xiaoyan, Kong, Weijing, Jiang, Yuwu, Macdonald, Robert L.
Format:	Artikel
Sprache:	eng
Schlagworte:	13 14 14/19 45 631/378/2586 692/617/375/178 9/74 Humanities and Social Sciences multidisciplinary Science Science (multidisciplinary)
Online-Zugang:	Volltext
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