{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Villa C"],"funding":["University of Milano-Bicocca"],"pagination":["12548"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9565017"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(19)"],"pubmed_abstract":["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 "],"journal":["International journal of environmental research and public health"],"pubmed_title":["Exome Sequencing in an ADSHE Family: VUS Identification and Limits."],"pmcid":["PMC9565017"],"funding_grant_id":["2020-ATE-0019","2021-ATE-0266"],"pubmed_authors":["Combi R","Arrigoni F","Ferini-Strambi L","Villa C","Rivellini E","Lavitrano M","De Gioia L"],"additional_accession":[]},"is_claimable":false,"name":"Exome Sequencing in an ADSHE Family: VUS Identification and Limits.","description":"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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-04-08T18:07:52.476Z","creation":"2025-02-19T01:28:08.266Z"},"accession":"S-EPMC9565017","cross_references":{"pubmed":["36231847"],"doi":["10.3390/ijerph191912548"]}}