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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-08-01
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Series: | Medicina |
Subjects: | |
Online Access: | https://www.mdpi.com/1010-660X/56/8/387 |