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

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

Epilepsia - 1 Mar 2015

Hartmann Corinna, von Spiczak Sarah, Suls Arvid, Weckhuysen Sarah, Buyse Gunnar, Vilain Catheline, Van Bogaert Patrick, De Jonghe Peter, Cook Joseph, Muhle Hiltrud, Stephani Ulrich, Helbig Ingo, Mefford Heather C

Abstract excerpt

Fever-associated syndromic epilepsies ranging from febrile seizures plus (FS+) to Dravet syndrome have a significant genetic component. However, apart from SCN1A mutations in >80% of patients with Dravet syndrome, the genetic underpinnings of these epilepsies remain largely unknown. Therefore, we performed a genome-wide screening for copy number variations (CNVs) in 36 patients with SCN1A-negative...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Epilepsy

Share to Genetic Association Studies

Share to NAV1.1 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 25690317
DOI: 10.1111/epi.12920
PMCID: PMC4363163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.PMID 25690317Read ↗

Duplications of 17q12 can cause familial fever-related epilepsy syndromes.Semantic proximity Read ↗

Copy number variation in genetic epilepsy with febrile seizures plus.Semantic proximity Read ↗

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genesSemantic proximity Read ↗

Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.Semantic proximity Read ↗

The genetics and molecular biology of fever-associated seizures or epilepsySemantic proximity Read ↗

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.Semantic proximity Read ↗

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Semantic proximity Read ↗

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.Semantic proximity Read ↗

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genesSemantic proximity Read ↗

Rare copy number variants are an important cause of epileptic encephalopathies.Semantic proximity Read ↗

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.Semantic proximity Read ↗

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.Semantic proximity Read ↗

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