'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 unr...
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fthighwire:oai:open-archive.highwire.org:brain:awt021v1 2023-05-15T17:43:33+02:00 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation Boissé Lomax, Lysa Bayly, Marta A. Hjalgrim, Helle Møller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michèl Kamsteeg, Erik-Jan OSullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. 2013-02-28 03:14:39.0 text/html http://brain.oxfordjournals.org/cgi/content/short/awt021v1 https://doi.org/10.1093/brain/awt021 en eng Oxford University Press http://brain.oxfordjournals.org/cgi/content/short/awt021v1 http://dx.doi.org/10.1093/brain/awt021 Copyright (C) 2013, Oxford University Press Original Article TEXT 2013 fthighwire https://doi.org/10.1093/brain/awt021 2015-02-28T23:46:18Z 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. Text Northern Norway HighWire Press (Stanford University) Norway Brain 136 4 1146 1154 |
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Original Article |
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Original Article Boissé Lomax, Lysa Bayly, Marta A. Hjalgrim, Helle Møller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michèl Kamsteeg, Erik-Jan OSullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg 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 |
Original Article |
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. |
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Text |
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Boissé Lomax, Lysa Bayly, Marta A. Hjalgrim, Helle Møller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michèl Kamsteeg, Erik-Jan OSullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. |
author_facet |
Boissé Lomax, Lysa Bayly, Marta A. Hjalgrim, Helle Møller, Rikke S. Vlaar, Annemarie M. Aaberg, Kari M. Marquardt, Iris Gandolfo, Luke C. Willemsen, Michèl Kamsteeg, Erik-Jan OSullivan, John D. Korenke, G. Christoph Bloem, Bastiaan R. de Coo, Irenaeus F. Verhagen, Judith M. A. Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg Rasmussen, Magnhild Vears, Danya F. Lehesjoki, Anna-Elina Corbett, Mark A. Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M. Berkovic, Samuel F. |
author_sort |
Boissé Lomax, Lysa |
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 |
http://brain.oxfordjournals.org/cgi/content/short/awt021v1 https://doi.org/10.1093/brain/awt021 |
geographic |
Norway |
geographic_facet |
Norway |
genre |
Northern Norway |
genre_facet |
Northern Norway |
op_relation |
http://brain.oxfordjournals.org/cgi/content/short/awt021v1 http://dx.doi.org/10.1093/brain/awt021 |
op_rights |
Copyright (C) 2013, Oxford University Press |
op_doi |
https://doi.org/10.1093/brain/awt021 |
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Brain |
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136 |
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4 |
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1146 |
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1154 |
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1766145657088770048 |