WFRF:(De Koning Tom J.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04286naa a2200553 4500 | |
| 001 | oai:lup.lub.lu.se:658a6065-21cd-4175-b5f4-a63ef234b401 | |
| 003 | SwePub | |
| 008 | 231115s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/658a6065-21cd-4175-b5f4-a63ef234b4012 URI |
| 024 | 7 | a https://doi.org/10.3390/genes141018602 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Hentrich, Leau Max Planck Institute for Biology of Ageing,University of Cologne,University Hospital of Cologne,Cologne Cluster of Excellence in Cellular Stress Responses in Aging-Associated Diseases4 aut |
| 245 | 1 0 | a Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy |
| 264 | 1 | c 2023 |
| 520 | a 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>A and the novel c.364G>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-clonic 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-phenotype 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a Adolescent | |
| 653 | a Child | |
| 653 | a Child, Preschool | |
| 653 | a Female | |
| 653 | a Humans | |
| 653 | a Male | |
| 653 | a Ataxia/genetics | |
| 653 | a Dystonia | |
| 653 | a Dystonic Disorders | |
| 653 | a Mutation | |
| 653 | a Myoclonic Epilepsies, Progressive/genetics | |
| 653 | a Myoclonus | |
| 653 | a Qb-SNARE Proteins/genetics | |
| 653 | a Seizures | |
| 700 | 1 | a Parnes, Meredu Baylor College of Medicine4 aut |
| 700 | 1 | a Lotze, Timothy Edwardu Baylor College of Medicine4 aut |
| 700 | 1 | a Coorg, Rohiniu Baylor College of Medicine4 aut |
| 700 | 1 | a de Koning, Tom Ju Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Groningen4 aut0 (Swepub:lu)to2856jd |
| 700 | 1 | a Nguyen, Kha Mu University of British Columbia4 aut |
| 700 | 1 | a Yip, Calvin Ku University of British Columbia4 aut |
| 700 | 1 | a Jungbluth, Heinzu King's College London,Evelina London Children's Healthcare4 aut |
| 700 | 1 | a Koy, Anneu University Hospital of Cologne,University of Cologne4 aut |
| 700 | 1 | a Dafsari, Hormos Salimiu University of Cologne,Max Planck Institute for Biology of Ageing,King's College London,University Hospital of Cologne,Cologne Cluster of Excellence in Cellular Stress Responses in Aging-Associated Diseases,Evelina London Children's Healthcare4 aut |
| 710 | 2 | a Max Planck Institute for Biology of Ageingb University of Cologne4 org |
| 773 | 0 | t Genesg 14:10q 14:10x 2073-4425 |
| 856 | 4 | u http://dx.doi.org/10.3390/genes14101860x freey FULLTEXT |
| 856 | 4 8 | u https://lup.lub.lu.se/record/658a6065-21cd-4175-b5f4-a63ef234b401 |
| 856 | 4 8 | u https://doi.org/10.3390/genes14101860 |
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