'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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ftunivleuven:oai:lirias.kuleuven.be:123456789/502135 2023-05-15T17:43:34+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 O'Sullivan, 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 Lehesjoki, Anna-Elina Corbett, Mark A Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M Berkovic, Samuel F 2013-04 https://lirias.kuleuven.be/handle/123456789/502135 http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=23449775 en eng Macmillan Brain vol:136 issue:Pt 4 pages:1146-54 https://lirias.kuleuven.be/handle/123456789/502135 0006-8950 http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=23449775 1460-2156 Adolescent Adult Ataxia Child Electroencephalography Europe Female Humans Male Mutation Myoclonic Epilepsies Progressive North Sea Phenotype Qb-SNARE Proteins Young Adult Description (Metadata) only IT article 2013 ftunivleuven 2016-01-24T21:11:14Z 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. status: published Article in Journal/Newspaper Northern Norway KU Leuven: Lirias Norway |
institution |
Open Polar |
collection |
KU Leuven: Lirias |
op_collection_id |
ftunivleuven |
language |
English |
topic |
Adolescent Adult Ataxia Child Electroencephalography Europe Female Humans Male Mutation Myoclonic Epilepsies Progressive North Sea Phenotype Qb-SNARE Proteins Young Adult |
spellingShingle |
Adolescent Adult Ataxia Child Electroencephalography Europe Female Humans Male Mutation Myoclonic Epilepsies Progressive North Sea Phenotype Qb-SNARE Proteins Young Adult 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 O'Sullivan, 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 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 |
Adolescent Adult Ataxia Child Electroencephalography Europe Female Humans Male Mutation Myoclonic Epilepsies Progressive North Sea Phenotype Qb-SNARE Proteins Young Adult |
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. status: published |
format |
Article in Journal/Newspaper |
author |
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 O'Sullivan, 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 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 O'Sullivan, 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 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 |
Macmillan |
publishDate |
2013 |
url |
https://lirias.kuleuven.be/handle/123456789/502135 http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=23449775 |
geographic |
Norway |
geographic_facet |
Norway |
genre |
Northern Norway |
genre_facet |
Northern Norway |
op_relation |
Brain vol:136 issue:Pt 4 pages:1146-54 https://lirias.kuleuven.be/handle/123456789/502135 0006-8950 http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=23449775 1460-2156 |
_version_ |
1766145683095552000 |