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Article

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.

Human molecular genetics - 1 Jun 2013

Lignani Gabriele, Raimondi Andrea, Ferrea Enrico, Rocchi Anna, Paonessa Francesco, Cesca Fabrizia, Orlando Marta, Tkatch Tatiana, Valtorta Flavia, Cossette Patrick, Baldelli Pietro, Benfenati Fabio

Abstract excerpt

Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene have a causal role in idiopathic epilepsy and autism. To get insights into the mechanisms of...

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Identifiers

PMID: 23406870
DOI: 10.1093/hmg/ddt071
PMCID: PMC3652419

Genes

SYN1

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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