biostudies-literatureVilla CUniversity of Milano-Bicocca12548https://www.ebi.ac.uk/biostudies/studies/S-EPMC9565017biostudies-literatureUnknown19(19)Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is the familial form of a focal epilepsy characterized by hyperkinetic focal seizures, mainly arising during non-rapid eye movements (NREM) sleep. Mutations associated with ADSHE account for a small proportion of the genetically determined cases, suggesting the existence of other disease-causing genes. Here, we reported the results obtained by performing trio-based whole-exome sequencing (WES) in an Italian family showing ADSHE and investigated the structural impact of putative variants by in silico modeling analysis. We identified a p.(Trp276Gly) variant in <i>MOXD1</i> gene encoding the monooxigenase DBH like 1 protein, cosegregating with the disease and annotated as VUS under the ACMG recommendations. Structural bioinformatic International journal of environmental research and public healthExome Sequencing in an ADSHE Family: VUS Identification and Limits.PMC95650172020-ATE-00192021-ATE-0266Combi RArrigoni FFerini-Strambi LVilla CRivellini ELavitrano MDe Gioia LfalseExome Sequencing in an ADSHE Family: VUS Identification and Limits.Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is the familial form of a focal epilepsy characterized by hyperkinetic focal seizures, mainly arising during non-rapid eye movements (NREM) sleep. Mutations associated with ADSHE account for a small proportion of the genetically determined cases, suggesting the existence of other disease-causing genes. Here, we reported the results obtained by performing trio-based whole-exome sequencing (WES) in an Italian family showing ADSHE and investigated the structural impact of putative variants by in silico modeling analysis. We identified a p.(Trp276Gly) variant in <i>MOXD1</i> gene encoding the monooxigenase DBH like 1 protein, cosegregating with the disease and annotated as VUS under the ACMG recommendations. Structural bioinformatic 2022-01-01T00:00:00Z2022 Oct2026-04-08T18:07:52.476Z2025-02-19T01:28:08.266ZS-EPMC95650173623184710.3390/ijerph191912548