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Article

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

Journal of the neurological sciences - 15 Apr 2014

Zeigler Marsha, Meiner Vardiella, Newman J P, Steiner-Birmanns Bettina, Bargal Ruth, Sury Vivi, Mengistu Getu, Kakhlon Or, Leykin Ina, Argov Zohar, Abramsky Oded, Lossos Alexander

Abstract excerpt

Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate-independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We report a family with myoclonic epilepsy, ataxia and skeletal muscle atrophy but without cognitive...

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Source

Identifiers

PMID: 24485911
DOI: 10.1016/j.jns.2014.01.022

Genes

SCARB2

Provenance

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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A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.PMID 24485911Read ↗

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