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A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro
The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABA(A) receptor family. Variants in this gene are causatively implicated in different forms of epilepsy and also more severe epilepsy-related neurodevelopmental syndromes. Here we study functional consequences of...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Sci Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7012862/ https://ncbi.nlm.nih.gov/pubmed/32047208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-59323-6 |
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