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Article

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Epilepsia - 1 Dec 2011

Rubboli Guido, Franceschetti Silvana, Berkovic Samuel F, Canafoglia Laura, Gambardella Antonio, Dibbens Leanne M, Riguzzi Patrizia, Campieri Claudio, Magaudda Adriana, Tassinari Carlo Alberto, Michelucci Roberto

Abstract excerpt

PURPOSE: Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. We describe the clinical and neurophysiologic features of PME associated with SCARB2 mutations without renal impairment. METHODS: Clinical and neurophysiologic investigations, including wakefulness and sleep...

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Source

Identifiers

PMID: 22050460
DOI: 10.1111/j.1528-1167.2011.03307.x

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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