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Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a...
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| Publicado en: | Medicina (Kaunas) |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
MDPI
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7466289/ https://ncbi.nlm.nih.gov/pubmed/32752300 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/medicina56080387 |
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