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

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.

Journal of medical genetics - 29 Aug 2024

Song Wang, Bian Wen-Jun, Li Hua, Guo Qing-Hui, Wang Jie, Tang Bin, Zhang Jia-Yuan, Wei Wei, Liu Xiao-Rong, Liao Wei-Ping, Li Bin, He Na

Abstract excerpt

BACKGROUND: IFIH1 variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether IFIH1 variants are associated with common epilepsy without acquired causes and the mechanism underlying phenotypic variation remains elusive. METHODS: Trio-based whole-exome sequencing was performed on patients with febrile seizures or epilepsy with antecedent febrile seizures....

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Infant

Share to Interferon-Induced Helicase, IFIH1

Share to Mutation, Missense

Share to Seizures, Febrile

Source

Open in PubMed Open full text

Identifiers

PMID: 38964834
DOI: 10.1136/jmg-2024-109950
PMCID: PMC11420756

Genes

IFIH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.PMID 38964834Read ↗

CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures.Semantic proximity Read ↗

Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy.Semantic proximity Read ↗

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Semantic proximity Read ↗

<i>ZGRF1</i> variants implicated in a sensory reflex epilepsySemantic proximity Read ↗

<i>ZFHX3</i>variants cause childhood partial epilepsy and infantile spasms with favorable outcomesSemantic proximity Read ↗

Aicardi-Goutières Syndrome Is Caused by IFIH1 MutationsSemantic proximity Read ↗

Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.Semantic proximity Read ↗

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndromeSemantic proximity Read ↗

ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.Semantic proximity Read ↗

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.Semantic proximity Read ↗

Repeated Episodes of GPP Induced by Respiratory Infections Are Mediated by Loss-of-Function IFIH1.Semantic proximity Read ↗

RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.Semantic proximity Read ↗

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