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MICHELE ROCCELLA

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

  • Autori: Cali F.; Elia M.; Vinci M.; Vetri L.; Correnti E.; Trapolino E.; Roccella M.; Vanadia F.; Romano V.
  • Anno di pubblicazione: 2020
  • Tipologia: Articolo in rivista
  • OA Link: http://hdl.handle.net/10447/431918

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.