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Article

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

Epilepsy & behavior : E&B - 1 Jul 2013

Yamakawa Kazuhiro, Suzuki Toshimitsu

Abstract excerpt

Mutations in EFHC1 gene cause juvenile myoclonic epilepsy (JME). We previously showed that myoclonin1 protein encoded by EFHC1 is expressed in prenatal choroid plexus and postnatal ependymal cell cilia but may not be in neurons. However, another group reported that myoclonin1 is expressed in neurons and at mitotic spindle, and that the suppression of EFHC1 by RNAi caused disruption of mitotic spindle structure,...

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Source

Identifiers

PMID: 23756482
DOI: 10.1016/j.yebeh.2012.06.032

Genes

EFHC1

Provenance

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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Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?PMID 23756482Read ↗

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia.Semantic proximity Read ↗

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EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.Semantic proximity Read ↗

EFHC1 interacts with microtubules to regulate cell division and cortical development.Semantic proximity Read ↗

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.Semantic proximity Read ↗

The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagellaSemantic proximity Read ↗

Epilepsy protein myoclonin1 interacts with inositol 1,4,5–trisphosphate (IP <sub>3</sub> ) receptor and reduces Ca <sup>2+</sup> store in endoplasmic reticulumSemantic proximity Read ↗

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Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.Semantic proximity Read ↗

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