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, Valentino Romano

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number387
Pages (from-to)1-4
Number of pages4
JournalMedicina (Lithuania)
Issue number8
Publication statusPublished - Aug 2020


  • Allopregnanolone
  • DHRS9
  • Exome
  • GABA
  • NGS
  • Temporal lobe epilepsy

ASJC Scopus subject areas

  • Medicine(all)


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