Article

An empirical pipeline for personalized diagnosis of Lafora disease mutations

2021-03-26

Abstract excerpt

<h4>ABSTRACT</h4> Lafora disease (LD) is a fatal, insidious metabolic disorder characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either EPM2A , encoding the glycogen phosphatase laforin, or EPM2B , encoding the E3 ligase malin, cause LD. Whole exome sequencing has revealed many EPM2A variants...

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Literature Corpus work: 003daa57-a25f-57ad-a665-229263ff09a9
DOI: 10.1101/2021.03.26.437206

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