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Article

Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.

Neurology - 10 Jun 2014

Jones Matthew, Odunsi Sola, du Plessis Daniel, Vincent Angela, Bishop Matthew, Head Mark W, Ironside James W, Gow David

Abstract excerpt

OBJECTIVE: To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs). METHODS: Clinical data were gathered from retrospective review of the case notes. Postmortem neuropathologic examination was performed, and DNA was extracted from frozen brain...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24814844
DOI: 10.1212/WNL.0000000000000500
PMCID: PMC4118501

Genes

PRNP
GSS
LGI1

Variants

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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