Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

doi:10.1016/j.ejpn.2020.05.003

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

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2020

Rudolf Gabrielle, de Bellescize Julitta, de Saint Martin Anne, Arzimanoglou Alexis, Valenti Hirsch Maria Paola, Labalme Audrey, Boulay Clotilde, Simonet Thomas, Boland Anne, Deleuze Jean François, Nitschké Patrick, Ollivier Emmanuelle, Sanlaville Damien, Hirsch Edouard, Chelly Jamel, Lesca Gaetan

Abstract excerpt

OBJECTIVE: Self-limited focal epilepsies of childhood (SFEC) are amongst the best defined and most frequent epilepsy syndromes affecting children with usually normal developmental milestones. They include core syndromes such as Rolandic epilepsy or "Benign" epilepsy with Centro-Temporal Spikes and the benign occipital epilepsies, the early onset Panayiotopoulos syndrome and the late-onset Gastaut type. Atypical...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Epilepsies, Partial

Share to Epilepsy research and treatment

Share to Exome

Share to Genetic Predisposition to Disease

Share to Mutation, Missense

Source

Open in PubMed

Identifiers

PMID: 32600977
DOI: 10.1016/j.ejpn.2020.05.003

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

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.PMID 32600977Read ↗

Rare gene deletions in genetic generalized and Rolandic epilepsies.Semantic proximity Read ↗

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.Semantic proximity Read ↗

Genetic characteristics of non-familial epilepsySemantic proximity Read ↗

GRIN2A mutations cause epilepsy-aphasia spectrum disorders.Semantic proximity Read ↗

From next-generation sequencing to targeted treatment of non-acquired epilepsiesSemantic proximity Read ↗

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Semantic proximity Read ↗

Investigation of GRIN2A in common epilepsy phenotypes.Semantic proximity Read ↗

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.Semantic proximity Read ↗

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.Semantic proximity Read ↗

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.Semantic proximity Read ↗

Genetic generalized epilepsies.Semantic proximity Read ↗

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.Semantic proximity Read ↗

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