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Article

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Epilepsy research - 1 Jan 2000

Gu Wenli, Sander Thomas, Heils Armin, Lenzen Kirsten P, Steinlein Ortrud K

Abstract excerpt

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). An oligogenic or polygenic predisposition is suspected in the majority of families with common IGE syndromes. It has been hypothesized that some IGE genes might increase the general level of neuronal exc...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16112844
DOI: 10.1016/j.eplepsyres.2005.07.003

Genes

EFHC2
EFHC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16112844-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.PMID 16112844Read ↗

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

EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.Semantic proximity Read ↗

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

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.Semantic proximity Read ↗

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.Semantic proximity Read ↗

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Semantic proximity Read ↗

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.Semantic proximity Read ↗

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

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.Semantic proximity Read ↗

Advances in Genetics of Juvenile Myoclonic EpilepsiesSemantic proximity Read ↗

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Semantic proximity Read ↗

The quest for juvenile myoclonic epilepsy genes.Semantic proximity Read ↗

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