Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

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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Bibliographic Details
Main Authors: Francesco Calì, Maurizio Elia, Mirella Vinci, Luigi Vetri, Edvige Correnti, Emanuele Trapolino, Michele Roccella, Francesca Vanadia, Valentino Romano
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Medicina
Subjects:
DHRS9
allopregnanolone
GABA
temporal lobe epilepsy
NGS
exome
Online Access:https://www.mdpi.com/1010-660X/56/8/387

Internet

https://www.mdpi.com/1010-660X/56/8/387

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