North Sea progressive myoclonus epilepsy (NSPME)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
North Sea progressive myoclonus epilepsy (NSPME). This is caused by mutations in the GOSR2 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the GOSR2 gene
- It is a Golgi SNAREopathy
- The onset age is between 1 to 4 years
Clinical features
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Myoclonus exacerbating factors
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Neurophysiological features
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Other investigations
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Treatment of myoclonus and seizures
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Synonym
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References
- Polet SS, Anderson DG, Koens LH, et al. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients. Parkinsonism Relat Disord 2020; 72:44-48.
- Corbett MA, Schwake M, Bahlo M, et al. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 2011; 88:657-663.
- Jepson JEC, Praschberger R, Krishnakumar SS. Mechanisms of Neurological Dysfunction in GOSR2 progressive myoclonus epilepsy, a golgi SNAREopathy. Neuroscience 2019; 420:41-49.
- Lambrechts RA, Polet SS, Hernandez-Pichardo A, et al. North Sea progressive myoclonus epilepsy is exacerbated by heat, a phenotype primarily associated with affected glia. Neuroscience 2019; 423:1-11.
