{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["48(6)"],"submitter":["Polet SS"],"pubmed_abstract":["North Sea-Progressive Myoclonus Epilepsy (NS-PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early-onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of GOSR2 mutations and associated phenotypic variability has expanded. To improve care and to facilitate genotype-phenotype predictions for NS-PME patients, we systematically reviewed all reported GOSR2 mutations, clinical phenotypes, and pathophysiological findings. A narrative review literature search was conducted in PubMed, EMBASE, and Web of Science (1985-August 2024) using the keywords \"GOSR2\", \"GS27 protein\", \"Bos1\", and \"Membrin\". Only studies in English and specifically studies on GOSR2 f"],"journal":["Journal of inherited metabolic disease"],"pagination":["e70115"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12631098"],"repository":["biostudies-literature"],"pubmed_title":["The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights."],"pmcid":["PMC12631098"],"pubmed_authors":["Polet SS","Fuchs SA","de Koning TJ","Siegal EZ","Tijssen MAJ"],"additional_accession":[]},"is_claimable":false,"name":"The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.","description":"North Sea-Progressive Myoclonus Epilepsy (NS-PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early-onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of GOSR2 mutations and associated phenotypic variability has expanded. To improve care and to facilitate genotype-phenotype predictions for NS-PME patients, we systematically reviewed all reported GOSR2 mutations, clinical phenotypes, and pathophysiological findings. A narrative review literature search was conducted in PubMed, EMBASE, and Web of Science (1985-August 2024) using the keywords \"GOSR2\", \"GS27 protein\", \"Bos1\", and \"Membrin\". Only studies in English and specifically studies on GOSR2 f","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-07-15T14:30:20.247Z","creation":"2026-07-06T03:08:30.491Z"},"accession":"S-EPMC12631098","cross_references":{"pubmed":["41261947"],"doi":["10.1002/jimd.70115"]}}