Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

doi:10.1186/s40246-024-00659-9

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

Community

Back to search

Article

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Human genomics - 21 Nov 2024

Dahawi Maha, de Sainte Agathe Jean-Madeleine, Elmagzoub Mohamed S, Ahmed Elhami A, Buratti Julien, Courtin Thomas, Noé Eric, Bogoin Julie, Copin Bruno, Elmugadam Fatima A, Abdelgadir Wasma A, Ahmed Ahmed K M A, Daldoum Mohamed A, Altayeb Rayan Mamoon Ibrahim, Bashir Mohamed, Khalid Leena Mohamed, Gamil Sahar, Baldassari Sara, Elsayed Liena, Keren Boris, Nuel Gregory, Ahmed Ammar E, Leguern Eric

Abstract excerpt

Genetic generalized epilepsy (GGE) including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy (JME), and GGE with tonic-clonic seizures (TCS) (GGE-TCS), is genetically influenced with a two- to four- fold increased risk in the first-degree relatives of patients. Since large families with GGE are very rare, international studies have focused on sporadic GGE patients using whole...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Epilepsy, Generalized

Share to Exome Sequencing

Share to Genetic Heterogeneity

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Sudan

Source

Open in PubMed Open full text

Identifiers

PMID: 39574152
DOI: 10.1186/s40246-024-00659-9
PMCID: PMC11583555

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.PMID 39574152Read ↗

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.Semantic proximity Read ↗

Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy.Semantic proximity Read ↗

Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.Semantic proximity Read ↗

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.Semantic proximity Read ↗

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesSemantic proximity Read ↗

Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.Semantic proximity Read ↗

Genome-Wide Association Study Reveals Genetic Architecture of Common Epilepsies.Semantic proximity Read ↗

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.Semantic proximity Read ↗

Unraveling the role of non-coding rare variants in epilepsySemantic proximity Read ↗

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.Semantic proximity Read ↗

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.Semantic proximity Read ↗

Unraveling the genetics of common epilepsies: approaches, platforms, and caveats.Semantic proximity Read ↗

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