Altered Channel Conductance States and Gating of GABA(A) Receptors by a Pore Mutation Linked to Dravet Syndrome

We identified a de novo missense mutation, P302L, in the γ-aminobutyric acid type A (GABA(A)) receptor γ2 subunit gene GABRG2 in a patient with Dravet syndrome using targeted next-generation sequencing. The mutation was in the cytoplasmic portion of the transmembrane segment M2 of the γ2 subunit tha...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:eNeuro
Prif Awduron: Hernandez, Ciria C., Kong, Weijing, Hu, Ningning, Zhang, Yujia, Shen, Wangzhen, Jackson, Laurel, Liu, Xiaoyan, Jiang, Yuwu, Macdonald, Robert L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Society for Neuroscience 2017
Pynciau:
New Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5301078/
https://ncbi.nlm.nih.gov/pubmed/28197552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0251-16.2017
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