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Article

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

Annals of neurology - 1 Aug 2014

Vanni Nicola, Fruscione Floriana, Ferlazzo Edoardo, Striano Pasquale, Robbiano Angela, Traverso Monica, Sander Thomas, Falace Antonio, Gazzerro Elisabetta, Bramanti Placido, Bielawski Jacek, Fassio Anna, Minetti Carlo, Genton Pierre, Zara Federico

Abstract excerpt

OBJECTIVE: Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders. METHODS: We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, in 4 siblings affected by a progressive disorder with myoclonic epilepsy and dementia. CerS1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of...

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Identifiers

PMID: 24782409
DOI: 10.1002/ana.24170

Genes

CERS1

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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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