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Effects of GABA(A) Receptor α3 Subunit Epilepsy Mutations on Inhibitory Synaptic Signaling
Missense mutations T166M, Q242L, T336M, and Y474C in the GABA(A) receptor (GABA(A)R) α3 subunit gene are associated with epileptic seizures, dysmorphic features, intellectual disability, and developmental delay. When incorporated into GABA(A)Rs expressed in oocytes, all mutations are known to reduce...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714833/ https://www.ncbi.nlm.nih.gov/pubmed/33328885 http://dx.doi.org/10.3389/fnmol.2020.602559 |