The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
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DOI: 10.1002/jimd.70115
Abstract: North Sea‐Progressive Myoclonus Epilepsy (NS‐PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early‐onset ataxia, cortical myoclonus and epilepsy. Recently, the spectrum of… read more here.
Keywords: gosr2 mutations; gosr2; epilepsy; spectrum gosr2 ... See more keywords