6533b7defe1ef96bd12766de
RESEARCH PRODUCT
Are mutations in the dhrs9 gene causally linked to epilepsy? A case report
Mirella VinciFrancesca VanadiaMichele RoccellaValentino RomanoEmanuele TrapolinoLuigi VetriEdvige CorrentiMaurizio EliaFrancesco Calìsubject
0301 basic medicineCase ReportCompound heterozygosityBioinformaticsAllopregnanolone DHRS9 Exome GABA NGS Temporal lobe epilepsygamma-Aminobutyric acid03 medical and health scienceschemistry.chemical_compoundEpilepsyGABA0302 clinical medicinemedicineMissense mutationGeneExomelcsh:R5-920business.industryMechanism (biology)DHRS9AllopregnanoloneallopregnanoloneGeneral Medicinetemporal lobe epilepsymedicine.disease030104 developmental biologychemistryNGSlcsh:Medicine (General)business030217 neurology & neurosurgeryexomemedicine.drugdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-08-01 |