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

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neurology - 15 Jul 2008

Neubauer B A, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T

Abstract excerpt

OBJECTIVE: To explore the involvement of M-type potassium channels KCNQ2, Q3, and Q5 in the pathogenesis of common idiopathic epilepsies. METHODS: Sequence analysis of the KCNQ2, Q3, and Q5 coding regions was performed in a screening sample consisting of 58 nuclear families with rolandic epilepsy. Subsequently, an association study was conducted for all discovered variants in a case-control sample comprising 459...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to KCNQ2 Potassium Channel

Share to KCNQ3 Potassium Channel

Share to Mutation, Missense

Share to Syndrome

Share to Xenopus laevis

Source

Identifiers

PMID: 18625963
DOI: 10.1212/01.wnl.0000317090.92185.ec

Genes

KCNQ2
KCNQ3

Variants

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

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.PMID 18625963Read ↗

KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.Semantic proximity Read ↗

KCNQ2 related-epilepsy: Report of nine cases and novel loss-of-function missense variantsSemantic proximity Read ↗

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.Semantic proximity Read ↗

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.Semantic proximity Read ↗

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.Semantic proximity Read ↗

Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.Semantic proximity Read ↗

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsySemantic proximity Read ↗

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disabilitySemantic proximity Read ↗

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.Semantic proximity Read ↗

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.Semantic proximity Read ↗

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.Semantic proximity Read ↗

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.Semantic proximity Read ↗

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