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Article

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

Disease models & mechanisms - 19 Dec 2017

Völker Jörn M, Dergai Mykola, Abriata Luciano A, Mingard Yves, Ysselstein Daniel, Krainc Dimitri, Dal Peraro Matteo, Fischer von Mollard Gabriele, Fasshauer Dirk, Koliwer Judith, Schwake Michael

Abstract excerpt

Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Qb-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients are homo-zygous for a p.Gly144Trp mutation and develop similar clinical presentations. Recently, a patient who was...

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Identifiers

PMID: 28982678
DOI: 10.1242/dmm.029132
PMCID: PMC5769602

Genes

GOSR2

Variants

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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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