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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606070/
https://www.ncbi.nlm.nih.gov/pubmed/37895210
http://dx.doi.org/10.3390/genes14101860

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606070/
https://www.ncbi.nlm.nih.gov/pubmed/37895210
http://dx.doi.org/10.3390/genes14101860

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