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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Detalles Bibliográficos
Autores principales: Calì, Francesco, Elia, Maurizio, Vinci, Mirella, Vetri, Luigi, Correnti, Edvige, Trapolino, Emanuele, Roccella, Michele, Vanadia, Francesca, Romano, Valentino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466289/
https://www.ncbi.nlm.nih.gov/pubmed/32752300
http://dx.doi.org/10.3390/medicina56080387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466289/
https://www.ncbi.nlm.nih.gov/pubmed/32752300
http://dx.doi.org/10.3390/medicina56080387

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