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

Deletions or duplications in <i>KCNQ2</i> can cause benign familial neonatal seizures

3 Aug 2007

Abstract excerpt

BACKGROUND: Benign familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. More than 60 mutations have been described in BFNS families, approximately half of which lead to protein truncation. The hypothesis of this study was that deletion or duplication of >or=1 exons of KCNQ2 could cause BFNS in cases without coding or splicing mutations. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Epilepsy research and treatment
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17675531
DOI: 10.1136/jmg.2007.051938

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions or duplications in <i>KCNQ2</i> can cause benign familial neonatal seizuresPMID 17675531Read ↗

Deletions involving both <i>KCNQ2</i> and <i>CHRNA4</i> present with benign familial neonatal seizuresSemantic proximity Read ↗

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Semantic proximity Read ↗

Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.Semantic proximity Read ↗

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.Semantic proximity Read ↗

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.Semantic proximity Read ↗

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.Semantic proximity Read ↗

De novo KCNQ2 mutations in patients with benign neonatal seizures.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 ↗

The variable phenotypes of KCNQ-related epilepsy.Semantic proximity Read ↗

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.Semantic proximity Read ↗

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.Semantic proximity Read ↗

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.Semantic proximity Read ↗

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