FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2138788991> ?p ?o ?g. }

• W2138788991 endingPage "1154" @default.
• W2138788991 startingPage "1146" @default.
• W2138788991 abstract "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." @default.
• W2138788991 created "2016-06-24" @default.
• W2138788991 creator A5005237620 @default.
• W2138788991 creator A5006743025 @default.
• W2138788991 creator A5013591963 @default.
• W2138788991 creator A5013984837 @default.
• W2138788991 creator A5016228050 @default.
• W2138788991 creator A5016359874 @default.
• W2138788991 creator A5016478750 @default.
• W2138788991 creator A5028610211 @default.
• W2138788991 creator A5035064433 @default.
• W2138788991 creator A5042806203 @default.
• W2138788991 creator A5047292905 @default.
• W2138788991 creator A5054067653 @default.
• W2138788991 creator A5060709099 @default.
• W2138788991 creator A5061764650 @default.
• W2138788991 creator A5065678737 @default.
• W2138788991 creator A5071894755 @default.
• W2138788991 creator A5074288810 @default.
• W2138788991 creator A5075022984 @default.
• W2138788991 creator A5078721790 @default.
• W2138788991 creator A5082467704 @default.
• W2138788991 creator A5084088438 @default.
• W2138788991 creator A5085488468 @default.
• W2138788991 creator A5087332579 @default.
• W2138788991 creator A5087663292 @default.
• W2138788991 creator A5091095606 @default.
• W2138788991 creator A5091808177 @default.
• W2138788991 date "2013-02-28" @default.
• W2138788991 modified "2023-10-17" @default.
• W2138788991 title "‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation" @default.
• W2138788991 cites W1631789313 @default.
• W2138788991 cites W1654480701 @default.
• W2138788991 cites W1972178242 @default.
• W2138788991 cites W1973421354 @default.
• W2138788991 cites W1973567139 @default.
• W2138788991 cites W1978914673 @default.
• W2138788991 cites W1982092236 @default.
• W2138788991 cites W1997622565 @default.
• W2138788991 cites W2033797505 @default.
• W2138788991 cites W2037541555 @default.
• W2138788991 cites W2041790352 @default.
• W2138788991 cites W2055413164 @default.
• W2138788991 cites W2061537966 @default.
• W2138788991 cites W2068081016 @default.
• W2138788991 cites W2075127960 @default.
• W2138788991 cites W2092338449 @default.
• W2138788991 cites W2104743461 @default.
• W2138788991 cites W2123717583 @default.
• W2138788991 cites W2156746902 @default.
• W2138788991 cites W2160674404 @default.
• W2138788991 cites W2171518743 @default.
• W2138788991 cites W2181285684 @default.
• W2138788991 cites W2298545963 @default.
• W2138788991 cites W4297950801 @default.
• W2138788991 doi "https://doi.org/10.1093/brain/awt021" @default.
• W2138788991 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23449775" @default.
• W2138788991 hasPublicationYear "2013" @default.
• W2138788991 type Work @default.
• W2138788991 sameAs 2138788991 @default.
• W2138788991 citedByCount "58" @default.
• W2138788991 countsByYear W21387889912013 @default.
• W2138788991 countsByYear W21387889912014 @default.
• W2138788991 countsByYear W21387889912015 @default.
• W2138788991 countsByYear W21387889912016 @default.
• W2138788991 countsByYear W21387889912017 @default.
• W2138788991 countsByYear W21387889912018 @default.
• W2138788991 countsByYear W21387889912019 @default.
• W2138788991 countsByYear W21387889912020 @default.
• W2138788991 countsByYear W21387889912021 @default.
• W2138788991 countsByYear W21387889912022 @default.
• W2138788991 countsByYear W21387889912023 @default.
• W2138788991 crossrefType "journal-article" @default.
• W2138788991 hasAuthorship W2138788991A5005237620 @default.
• W2138788991 hasAuthorship W2138788991A5006743025 @default.
• W2138788991 hasAuthorship W2138788991A5013591963 @default.
• W2138788991 hasAuthorship W2138788991A5013984837 @default.
• W2138788991 hasAuthorship W2138788991A5016228050 @default.
• W2138788991 hasAuthorship W2138788991A5016359874 @default.
• W2138788991 hasAuthorship W2138788991A5016478750 @default.
• W2138788991 hasAuthorship W2138788991A5028610211 @default.
• W2138788991 hasAuthorship W2138788991A5035064433 @default.
• W2138788991 hasAuthorship W2138788991A5042806203 @default.
• W2138788991 hasAuthorship W2138788991A5047292905 @default.
• W2138788991 hasAuthorship W2138788991A5054067653 @default.
• W2138788991 hasAuthorship W2138788991A5060709099 @default.
• W2138788991 hasAuthorship W2138788991A5061764650 @default.
• W2138788991 hasAuthorship W2138788991A5065678737 @default.
• W2138788991 hasAuthorship W2138788991A5071894755 @default.
• W2138788991 hasAuthorship W2138788991A5074288810 @default.
• W2138788991 hasAuthorship W2138788991A5075022984 @default.
• W2138788991 hasAuthorship W2138788991A5078721790 @default.
• W2138788991 hasAuthorship W2138788991A5082467704 @default.
• W2138788991 hasAuthorship W2138788991A5084088438 @default.
• W2138788991 hasAuthorship W2138788991A5085488468 @default.
• W2138788991 hasAuthorship W2138788991A5087332579 @default.
• W2138788991 hasAuthorship W2138788991A5087663292 @default.
• W2138788991 hasAuthorship W2138788991A5091095606 @default.

• next