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Article

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

Chinese medical journal - 5 Jul 2018

He Jin, Lin Han, Li Jin-Jing, Su Hui-Zhen, Wang Dan-Ni, Lin Yu, Wang Ning, Chen Wan-Jin

Abstract excerpt

BACKGROUND: Progressive myoclonus epilepsies (PMEs) comprise a group of rare genetic disorders characterized by action myoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected. The aim of this study was to report an action myoclonus with or without renal failure syndrome (EPM4) family and...

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Source

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Identifiers

PMID: 29941711
DOI: 10.4103/0366-6999.235113
PMCID: PMC6032684

Genes

SCARB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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