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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Bibliografiske detaljer
Udgivet i:Medicina (Kaunas)
Main Authors: Calì, Francesco, Elia, Maurizio, Vinci, Mirella, Vetri, Luigi, Correnti, Edvige, Trapolino, Emanuele, Roccella, Michele, Vanadia, Francesca, Romano, Valentino
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2020
Fag:
Case Report
Online adgang: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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