| dbo:abstract
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- GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline. According to OMIM, only 12 cases have been described in medical literature. It is caused by autosomal recessive loss of function mutations in the (as the name implies) GOSR2 gene, in chromosome 17. (en)
- De Noordzeeziekte (ook wel Friese ziekte genoemd) is een ernstige, zeldzame aandoening waarbij patiënten last hebben van hun evenwicht in combinatie met progressieve myoclonische epilepsie (spierschokken). Eind 2016 waren er wereldwijd ongeveer 25 patiënten met deze ziekte bekend. De ziekte is vanaf de geboorte aanwezig. (nl)
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| dbo:alias
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- (en)
- EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6 (en)
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- 4797 (xsd:nonNegativeInteger)
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| dbp:causes
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- Autosomal recessive genetic mutation (en)
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| dbp:complications
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| dbp:deaths
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| dbp:diagnosis
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| dbp:duration
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- very rare, only 12 cases have been described in medical literature (en)
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| dbp:name
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- GOSR2-related progressive myoclonus ataxia (en)
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| dbp:onset
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| dbp:specialty
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| dbp:symptoms
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- Myoclonic epilepsy with progressive ataxia (en)
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| dbp:synonyms
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- EPM6, PME type 6, Progressive myoclonic epilepsy type 6, North Sea progressive myoclonus epilepsy, Progressive myoclonus epilepsy type 6 (en)
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| dbp:treatment
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| dbp:types
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- This disorder is a type of progressive myoclonic epilepsy, but it doesn't have any subtypes itself (en)
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| rdfs:comment
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- De Noordzeeziekte (ook wel Friese ziekte genoemd) is een ernstige, zeldzame aandoening waarbij patiënten last hebben van hun evenwicht in combinatie met progressieve myoclonische epilepsie (spierschokken). Eind 2016 waren er wereldwijd ongeveer 25 patiënten met deze ziekte bekend. De ziekte is vanaf de geboorte aanwezig. (nl)
- GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline. (en)
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| rdfs:label
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- GOSR2-related progressive myoclonus ataxia (en)
- Noordzeeziekte (nl)
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