• Medicina · Aug 2020

    Case Reports

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

    • Francesco Calì, Maurizio Elia, Mirella Vinci, Luigi Vetri, Edvige Correnti, Emanuele Trapolino, Michele Roccella, Francesca Vanadia, and Valentino Romano.
    • Oasi Research Institute-IRCCS, 94018 Troina, Italy.
    • Medicina (Kaunas). 2020 Aug 1; 56 (8).

    AbstractThe 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.

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