'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Fulltext embargoed for: 12 months post date of publication We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype i...
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OXFORD UNIV PRESS
2013
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ftumelbourne:oai:jupiter.its.unimelb.edu.au:11343/41366 2023-05-15T17:43:34+02:00 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation Lomax, LB Bayly, MA Hjalgrim, H Moller, RS Vlaar, AM Aaberg, KM Marquardt, I Gandolfo, LC Willemsen, M Kamsteeg, E-J O'Sullivan, JD Korenke, GC Bloem, BR de Coo, IF Verhagen, JMA Said, I Prescott, T Stray-Pedersen, A Rasmussen, M Vears, DF Lehesjoki, A-E Corbett, MA Bahlo, M Gecz, J Dibbens, LM Berkovic, SF 2013-04-01 http://hdl.handle.net/11343/41366 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000317400700015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c https://doi.org/10.1093/brain/awt021 English eng OXFORD UNIV PRESS doi:10.1093/brain/awt021 issn:0006-8950 NHMRC/466671 NHMRC/628952 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000317400700015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c Lomax, LB; Bayly, MA; Hjalgrim, H; Moller, RS; Vlaar, AM; Aaberg, KM; Marquardt, I; Gandolfo, LC; Willemsen, M; Kamsteeg, E-J; O'Sullivan, JD; Korenke, GC; Bloem, BR; de Coo, IF; Verhagen, JMA; Said, I; Prescott, T; Stray-Pedersen, A; Rasmussen, M; Vears, DF; Lehesjoki, A-E; Corbett, MA; Bahlo, M; Gecz, J; Dibbens, LM; Berkovic, SF, 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation, BRAIN, 2013, 136 pp. 1146 - 1154 0006-8950 http://hdl.handle.net/11343/41366 progressive myoclonus epilepsy GOSR2 scoliosis creatine kinase electroencephalography Journal Article 2013 ftumelbourne https://doi.org/10.1093/brain/awt021 2019-10-15T12:10:11Z Fulltext embargoed for: 12 months post date of publication We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including six new unrelated subjects. Clinical presentation was remarkably similar with early onset ataxia (average 2 years of age), followed by myoclonic seizures at the average age of 6.5 years. Patients developed multiple seizure types, including generalized tonic clonic seizures, absence seizures and drop attacks. All patients developed scoliosis by adolescence, making this an important diagnostic clue. Additional skeletal deformities were present, including pes cavus in four patients and syndactyly in two patients. All patients had elevated serum creatine kinase levels (median 734 IU) in the context of normal muscle biopsies. Electroencephalography revealed pronounced generalized spike and wave discharges with a posterior predominance and photosensitivity in all patients, with focal EEG features seen in seven patients. The disease course showed a relentless decline; patients uniformly became wheelchair bound (mean age 13 years) and four had died during their third or early fourth decade. All 12 cases had the same variant (c.430G>T, G144W) and haplotype analyses confirmed a founder effect. The cases all came from countries bounding the North Sea, extending to the coastal region of Northern Norway. 'North Sea' progressive myoclonus epilepsy has a homogeneous clinical presentation and relentless disease course allowing ready identification from the other progressive myoclonus epilepsies. Article in Journal/Newspaper Northern Norway The University of Melbourne: Digital Repository Norway Brain 136 4 1146 1154 |
institution |
Open Polar |
collection |
The University of Melbourne: Digital Repository |
op_collection_id |
ftumelbourne |
language |
English |
topic |
progressive myoclonus epilepsy GOSR2 scoliosis creatine kinase electroencephalography |
spellingShingle |
progressive myoclonus epilepsy GOSR2 scoliosis creatine kinase electroencephalography Lomax, LB Bayly, MA Hjalgrim, H Moller, RS Vlaar, AM Aaberg, KM Marquardt, I Gandolfo, LC Willemsen, M Kamsteeg, E-J O'Sullivan, JD Korenke, GC Bloem, BR de Coo, IF Verhagen, JMA Said, I Prescott, T Stray-Pedersen, A Rasmussen, M Vears, DF Lehesjoki, A-E Corbett, MA Bahlo, M Gecz, J Dibbens, LM Berkovic, SF 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
topic_facet |
progressive myoclonus epilepsy GOSR2 scoliosis creatine kinase electroencephalography |
description |
Fulltext embargoed for: 12 months post date of publication We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including six new unrelated subjects. Clinical presentation was remarkably similar with early onset ataxia (average 2 years of age), followed by myoclonic seizures at the average age of 6.5 years. Patients developed multiple seizure types, including generalized tonic clonic seizures, absence seizures and drop attacks. All patients developed scoliosis by adolescence, making this an important diagnostic clue. Additional skeletal deformities were present, including pes cavus in four patients and syndactyly in two patients. All patients had elevated serum creatine kinase levels (median 734 IU) in the context of normal muscle biopsies. Electroencephalography revealed pronounced generalized spike and wave discharges with a posterior predominance and photosensitivity in all patients, with focal EEG features seen in seven patients. The disease course showed a relentless decline; patients uniformly became wheelchair bound (mean age 13 years) and four had died during their third or early fourth decade. All 12 cases had the same variant (c.430G>T, G144W) and haplotype analyses confirmed a founder effect. The cases all came from countries bounding the North Sea, extending to the coastal region of Northern Norway. 'North Sea' progressive myoclonus epilepsy has a homogeneous clinical presentation and relentless disease course allowing ready identification from the other progressive myoclonus epilepsies. |
format |
Article in Journal/Newspaper |
author |
Lomax, LB Bayly, MA Hjalgrim, H Moller, RS Vlaar, AM Aaberg, KM Marquardt, I Gandolfo, LC Willemsen, M Kamsteeg, E-J O'Sullivan, JD Korenke, GC Bloem, BR de Coo, IF Verhagen, JMA Said, I Prescott, T Stray-Pedersen, A Rasmussen, M Vears, DF Lehesjoki, A-E Corbett, MA Bahlo, M Gecz, J Dibbens, LM Berkovic, SF |
author_facet |
Lomax, LB Bayly, MA Hjalgrim, H Moller, RS Vlaar, AM Aaberg, KM Marquardt, I Gandolfo, LC Willemsen, M Kamsteeg, E-J O'Sullivan, JD Korenke, GC Bloem, BR de Coo, IF Verhagen, JMA Said, I Prescott, T Stray-Pedersen, A Rasmussen, M Vears, DF Lehesjoki, A-E Corbett, MA Bahlo, M Gecz, J Dibbens, LM Berkovic, SF |
author_sort |
Lomax, LB |
title |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
title_short |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
title_full |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
title_fullStr |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
title_full_unstemmed |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
title_sort |
'north sea' progressive myoclonus epilepsy: phenotype of subjects with gosr2 mutation |
publisher |
OXFORD UNIV PRESS |
publishDate |
2013 |
url |
http://hdl.handle.net/11343/41366 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000317400700015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c https://doi.org/10.1093/brain/awt021 |
geographic |
Norway |
geographic_facet |
Norway |
genre |
Northern Norway |
genre_facet |
Northern Norway |
op_relation |
doi:10.1093/brain/awt021 issn:0006-8950 NHMRC/466671 NHMRC/628952 http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000317400700015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c Lomax, LB; Bayly, MA; Hjalgrim, H; Moller, RS; Vlaar, AM; Aaberg, KM; Marquardt, I; Gandolfo, LC; Willemsen, M; Kamsteeg, E-J; O'Sullivan, JD; Korenke, GC; Bloem, BR; de Coo, IF; Verhagen, JMA; Said, I; Prescott, T; Stray-Pedersen, A; Rasmussen, M; Vears, DF; Lehesjoki, A-E; Corbett, MA; Bahlo, M; Gecz, J; Dibbens, LM; Berkovic, SF, 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation, BRAIN, 2013, 136 pp. 1146 - 1154 0006-8950 http://hdl.handle.net/11343/41366 |
op_doi |
https://doi.org/10.1093/brain/awt021 |
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Brain |
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1154 |
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