biostudies-literatureUnknown48(6)Polet SSNorth 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 fJournal of inherited metabolic diseasee70115https://www.ebi.ac.uk/biostudies/studies/S-EPMC12631098biostudies-literatureThe Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.PMC12631098Polet SSFuchs SAde Koning TJSiegal EZTijssen MAJfalseThe Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.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 f2025-01-01T00:00:00Z2025 Nov2026-07-15T14:30:20.247Z2026-07-06T03:08:30.491ZS-EPMC126310984126194710.1002/jimd.70115