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Article

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

Human molecular genetics - 15 Mar 2009

Suzuki Toshimitsu, Miyamoto Hiroyuki, Nakahari Takashi, Inoue Ikuyo, Suemoto Takahiro, Jiang Bin, Hirota Yuki, Itohara Shigeyoshi, Saido Takaomi C, Tsumoto Tadaharu, Sawamoto Kazunobu, Hensch Takao K, Delgado-Escueta Antonio V, Yamakawa Kazuhiro

Abstract excerpt

Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is encoded by the mouse Efhc1 gene. Myoclonin1 is dominantly expressed in embryonic choroid plexus, post-natal ependymal cilia,...

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Identifiers

PMID: 19147686
DOI: 10.1093/hmg/ddp006
PMCID: PMC4817086

Genes

EFHC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19147686-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.PMID 19147686Read ↗

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

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.Semantic proximity Read ↗

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

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.Semantic proximity Read ↗

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