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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Society for Neuroscience
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301078/ https://www.ncbi.nlm.nih.gov/pubmed/28197552 http://dx.doi.org/10.1523/ENEURO.0251-16.2017 |