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from the DFG","award":["371\/2021"],"award-info":[{"award-number":["371\/2021"]}]},{"name":"Article Processing Charge from the DFG","award":["243\/2022"],"award-info":[{"award-number":["243\/2022"]}]},{"name":"Article Processing Charge from the DFG","award":["413543196"],"award-info":[{"award-number":["413543196"]}]},{"name":"Article Processing Charge from the DFG","award":["491454339"],"award-info":[{"award-number":["491454339"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G&gt;A and the novel c.364G&gt;A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age of 8 years with partial response to clonazepam. The second patient, a female homozygous for the GOSR2 founder variant p.Gly144Trp, showed only mild fine motor developmental delay and generalized tonic\u2013clonic seizures triggered by infections during adolescence, with seizure remission on levetiracetam. The associated movement disorder progressed atypically slowly during adolescence compared to its usual speed, from initial intention tremor and myoclonus to ataxia, hyporeflexia, dysmetria, and dystonia. These findings expand the genotype\u2013phenotype spectrum of GOSR2-related disorders and suggest that GOSR2 should be included in the consideration of monogenetic causes of dystonia, global developmental delay, and seizures.<\/jats:p>","DOI":"10.3390\/genes14101860","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T03:53:00Z","timestamp":1695700380000},"page":"1860","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy"],"prefix":"10.3390","volume":"14","author":[{"given":"Lea","family":"Hentrich","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany"},{"name":"Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-4282","authenticated-orcid":false,"given":"Mered","family":"Parnes","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy Edward","family":"Lotze","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohini","family":"Coorg","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands"},{"name":"Pediatrics, Department of Clinical Sciences, Lund University, 221 00 Lund, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kha M.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC V6T 1Z4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1779-9501","authenticated-orcid":false,"given":"Calvin K.","family":"Yip","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC V6T 1Z4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Evelina\u2019s Children Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust, London SE1 7EH, UK"},{"name":"Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King\u2019s College London, London WC2R 2LS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Koy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany"},{"name":"Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hormos Salimi","family":"Dafsari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany"},{"name":"Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany"},{"name":"Department of Paediatric Neurology, Evelina\u2019s Children Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust, London SE1 7EH, UK"},{"name":"Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King\u2019s College London, London WC2R 2LS, UK"},{"name":"Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.ajhg.2011.04.011","article-title":"A 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