'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
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 unrel...
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2013
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ftunivqespace:oai:espace.library.uq.edu.au:UQ:299908 2023-05-15T17:43:33+02:00 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation Lomax, Lysa Boisse Bayly, Marta A. Hjalgrim, Helle Moller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michel Kamsteeg, Erik-Jan O'Sullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjorg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. 2013-04-01 https://espace.library.uq.edu.au/view/UQ:299908 eng eng Oxford University Press doi:10.1093/brain/awt021 issn:0006-8950 issn:1460-2156 orcid:0000-0003-0422-8590 628952 Not set Progressive myoclonus epilepsy GOSR2 Scoliosis Creatine kinase 2728 Clinical Neurology Journal Article 2013 ftunivqespace https://doi.org/10.1093/brain/awt021 2020-12-15T00:00:21Z 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 Queensland: UQ eSpace Norway Brain 136 4 1146 1154 |
institution |
Open Polar |
collection |
The University of Queensland: UQ eSpace |
op_collection_id |
ftunivqespace |
language |
English |
topic |
Progressive myoclonus epilepsy GOSR2 Scoliosis Creatine kinase 2728 Clinical Neurology |
spellingShingle |
Progressive myoclonus epilepsy GOSR2 Scoliosis Creatine kinase 2728 Clinical Neurology Lomax, Lysa Boisse Bayly, Marta A. Hjalgrim, Helle Moller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michel Kamsteeg, Erik-Jan O'Sullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjorg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation |
topic_facet |
Progressive myoclonus epilepsy GOSR2 Scoliosis Creatine kinase 2728 Clinical Neurology |
description |
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, Lysa Boisse Bayly, Marta A. Hjalgrim, Helle Moller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michel Kamsteeg, Erik-Jan O'Sullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjorg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. |
author_facet |
Lomax, Lysa Boisse Bayly, Marta A. Hjalgrim, Helle Moller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michel Kamsteeg, Erik-Jan O'Sullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjorg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. |
author_sort |
Lomax, Lysa Boisse |
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 University Press |
publishDate |
2013 |
url |
https://espace.library.uq.edu.au/view/UQ:299908 |
geographic |
Norway |
geographic_facet |
Norway |
genre |
Northern Norway |
genre_facet |
Northern Norway |
op_relation |
doi:10.1093/brain/awt021 issn:0006-8950 issn:1460-2156 orcid:0000-0003-0422-8590 628952 Not set |
op_doi |
https://doi.org/10.1093/brain/awt021 |
container_title |
Brain |
container_volume |
136 |
container_issue |
4 |
container_start_page |
1146 |
op_container_end_page |
1154 |
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1766145645082574848 |