Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

Epilepsy research - 1 Oct 2006

Ma Shaochun, Blair Marcia A, Abou-Khalil Bassel, Lagrange Andre H, Gurnett Christina A, Hedera Peter

Abstract excerpt

Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME. We have in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium-Binding Proteins
Share to DNA Mutational Analysis
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myoclonic Epilepsy, Juvenile

Share to Pedigree

Share to Polymorphism, Genetic

Share to Protein Subunits

Share to Receptors, GABA-A

Source

Identifiers

PMID: 16839746
DOI: 10.1016/j.eplepsyres.2006.06.001

Genes

EFHC1
GABRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16839746-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.PMID 16839746Read ↗

Advances in Genetics of Juvenile Myoclonic EpilepsiesSemantic proximity Read ↗

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

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

Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.Semantic proximity Read ↗

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

Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.Semantic proximity Read ↗

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

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

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.Semantic proximity Read ↗

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.Semantic proximity Read ↗

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.