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Article

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Seizure - 1 Apr 2018

Tian Wo-Tu, Liu Xiao-Li, Xu Yang-Qi, Huang Xiao-Jun, Zhou Hai-Yan, Wang Ying, Tang Hui-Dong, Chen Sheng-Di, Luan Xing-Hua, Cao Li

Abstract excerpt

PURPOSE: To describe the clinical and genetic features of a Chinese progressive myoclonus epilepsy (PME) patient related with SCARB2 mutation without renal impairment and review 27 SCARB2-related PME patients from 11 countries. METHODS: The patient was a 27-year-old man with progressive action myoclonus, ataxia, epilepsy, dysarthria and absence of cognitive deterioration. Renal functional test was normal....

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Source

Identifiers

PMID: 29605618
DOI: 10.1016/j.seizure.2018.03.015

Genes

SCARB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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