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

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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Bibliographic Details
Main Authors: Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Michela Lo Conte, Clara Zannino, Giorgia Lucia Benedetto, Umberto Aguglia, Edoardo Ferlazzo, Giovanni Cuda, Elvira Immacolata Parrotta
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Cells
Subjects:
Unverricht-Lundborg disease
EPM1
cystatin B
human induced pluripotent stem cells
iPSCs-derived neurons
disease model
Online Access:https://www.mdpi.com/2073-4409/11/21/3491

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https://www.mdpi.com/2073-4409/11/21/3491

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