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Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
- Source :
-
Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2020 Aug 01; Vol. 56 (8). Date of Electronic Publication: 2020 Aug 01. - Publication Year :
- 2020
-
Abstract
- 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 girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway.
- Subjects :
- 3-Hydroxysteroid Dehydrogenases blood
Child, Preschool
Epilepsy diagnosis
Epilepsy epidemiology
Female
Humans
Mutation, Missense genetics
Polymorphism, Genetic genetics
Temporal Lobe abnormalities
Temporal Lobe diagnostic imaging
3-Hydroxysteroid Dehydrogenases analysis
Causality
Epilepsy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1648-9144
- Volume :
- 56
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Medicina (Kaunas, Lithuania)
- Publication Type :
- Report
- Accession number :
- 32752300
- Full Text :
- https://doi.org/10.3390/medicina56080387