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Article

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila.

Human molecular genetics - 1 Nov 2011

Rossetto Maria Giovanna, Zanarella Erica, Orso Genny, Scorzeto Michele, Megighian Aram, Kumar Vimlesh, Delgado-Escueta Antonio V, Daga Andrea

Abstract excerpt

Mutations in the EFHC1 gene have been linked to juvenile myoclonic epilepsy. To understand EFHC1 function in vivo, we generated knockout Drosophila for the fly homolog Defhc1.1. We found that the neuromuscular junction synapse of Defhc1.1 mutants displays an increased number of satellite boutons resulting in increased spontaneous neurotransmitter release. Defhc1.1 binds to microtubules in vitro and overlaps in...

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Identifiers

PMID: 21835885
DOI: 10.1093/hmg/ddr352

Genes

EFHC1

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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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Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila.PMID 21835885Read ↗

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