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

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.

BMC genetics - 25 Sept 2013

Belhedi Nejla, Bena Frédérique, Mrabet Amel, Guipponi Michel, Souissi Chiraz Bouchlaka, Mrabet Hela Khiari, Elgaaied Amel Benammar, Malafosse Alain, Salzmann Annick

Abstract excerpt

BACKGROUND: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. The aim of our study was to identify the responsible locus for GEFS+ syndrome in a consanguineous Tunisian family showing three affected members, by carrying out a genome-wide single nucleotide polymorphisms (SNPs) genotyping followed by a whole-exome sequencing. We hypothesized an...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Black People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to Consanguinity

Share to Epilepsy, Generalized

Share to GTPase-Activating Proteins

Share to Seizures, Febrile

Share to Tunisia

Source

Open in PubMed Open full text

Identifiers

PMID: 24067191
DOI: 10.1186/1471-2156-14-93
PMCID: PMC3851042

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.PMID 24067191Read ↗

The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).Semantic proximity Read ↗

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.Semantic proximity Read ↗

Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.Semantic proximity Read ↗

A novel GEFS+ locus on 12p13.33 in a large Roma family.Semantic proximity Read ↗

A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French FamiliesSemantic proximity Read ↗

Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.Semantic proximity Read ↗

Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33Semantic proximity Read ↗

GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families.Semantic proximity Read ↗

New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.Semantic proximity Read ↗

Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22.Semantic proximity Read ↗

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizuresSemantic proximity Read ↗

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