Article

A de novo SEMA6B variant in a Chinese patient with progressive myoclonic epilepsy-11 and review of the literature

2021-03-31

Abstract excerpt

<title>Abstract</title> <p>Progressive myoclonic epilepsy is a group of neurodegenerative diseases with complex clinical and genetic heterogeneity, which is associated with spontaneous or action-induced myoclonus and progressive neurodegeneration. Since 2020, 4 families with progressive myoclonic epilepsy-11 [OMIM#618876] have been reported with a very limited spectrum of SEMA6B pathogenic variants. In our study,...

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Literature Corpus work: 05a6c8d5-cab3-58e0-9250-2b5faa71e365
DOI: 10.21203/rs.3.rs-306316/v1

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