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.

Cali F., Elia M., Vinci M., Vetri L., Correnti E., Trapolino E., et al. (2020). Are mutations in the dhrs9 gene causally linked to epilepsy? A case report. MEDICINA, 56(8), 1-4 [10.3390/medicina56080387].

Are mutations in the dhrs9 gene causally linked to epilepsy? A case report

Vetri L.;Correnti E.;Roccella M.;Romano V.
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.
Cali F., Elia M., Vinci M., Vetri L., Correnti E., Trapolino E., et al. (2020). Are mutations in the dhrs9 gene causally linked to epilepsy? A case report. MEDICINA, 56(8), 1-4 [10.3390/medicina56080387].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/431918
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