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Article

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.

Genes - 25 Sept 2023

Hentrich Lea, Parnes Mered, Lotze Timothy Edward, Coorg Rohini, de Koning Tom J, Nguyen Kha M, Yip Calvin K, Jungbluth Heinz, Koy Anne, Dafsari Hormos Salimi

Abstract excerpt

Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical...

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Identifiers

PMID: 37895210
DOI: 10.3390/genes14101860
PMCID: PMC10606070

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