GABA(A) 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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Publicat a:Sci Rep
Autors principals: Hernandez, Ciria C., Zhang, Yujia, Hu, Ningning, Shen, Dingding, Shen, Wangzhen, Liu, Xiaoyan, Kong, Weijing, Jiang, Yuwu, Macdonald, Robert L.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698489/
https://ncbi.nlm.nih.gov/pubmed/29162865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-16010-3
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