Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs

Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder characterized by a complex symptomatology that includes action- and stimulus-sensitive myoclonus and tonic-clonic seizures. The main cause of the onset a...

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Detalles Bibliográficos
Autores principales: Lucchino, Valeria, Scaramuzzino, Luana, Scalise, Stefania, Lo Conte, Michela, Zannino, Clara, Benedetto, Giorgia Lucia, Aguglia, Umberto, Ferlazzo, Edoardo, Cuda, Giovanni, Parrotta, Elvira Immacolata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655992/
https://www.ncbi.nlm.nih.gov/pubmed/36359887
http://dx.doi.org/10.3390/cells11213491

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