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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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| Pubblicato in: | Sci Rep |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2017
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| Soggetti: | |
| Accesso online: | 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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