The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.

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

SUBMITTER: Polet SS 

PROVIDER: S-EPMC12631098 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature