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Article

First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.

Yonsei medical journal - 1 Aug 2018

Kim Ki Hoon, Song Ju Sun, Park Chan Wook, Ki Chang Seok, Heo Kyoung

Abstract excerpt

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean,...

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Identifiers

PMID: 29978618
DOI: 10.3349/ymj.2018.59.6.798
PMCID: PMC6037595

Genes

CSTB

Provenance

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