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

Topics Community

Article

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

Journal of neurogenetics - 1 Sept 2012

Zamorano-León José J, Yañez Rosa, Jaime Gabriel, Rodriguez-Sierra Pablo, Calatrava-Ledrado Laura, Alvarez-Granada Roman R, Mateos-Cáceres Petra Jiménez, Macaya Carlos, López-Farré Antonio J

Abstract excerpt

Long QT syndrome (LQTS) is closely associated with syncope, seizure, and sudden death but LQTS is frequently misdiagnosed as epilepsy. LQTS and epilepsy both belong to the group of ion channelopathies that manifest in the heart and brain. Therefore, genetic analysis of genes associated with potassium and sodium homeostasis and electrical disorders may reveal a link between epilepsy and lethal cardiac arrhythmia....

Topics

Arginine
DNA Mutational Analysis
Electrocardiography
Electroencephalography
Epilepsy
Family Health
Female
Humans
Long QT Syndrome
Mutation
Small-Conductance Calcium-Activated Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

Source

Identifiers

PMID: 22515331
DOI: 10.3109/01677063.2012.674993

Genes

KCNH2
KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.PMID 22515331Read ↗

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review.Semantic proximity Read ↗

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.Semantic proximity Read ↗

[Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy].Semantic proximity Read ↗

Congenital long QT syndrome presenting with a history of epilepsy: misdiagnosis or relationship between channelopathies of the heart and brain?Semantic proximity Read ↗

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.Semantic proximity Read ↗

Long QT syndrome with potassium voltage-gated channel subfamily H member 2 gene mutation mimicking refractory epilepsy: case report.Semantic proximity Read ↗

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.Semantic proximity Read ↗

Torsades de Pointes electrical storm in children with KCNH2 mutations.Semantic proximity Read ↗

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.Semantic proximity Read ↗

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy.Semantic proximity Read ↗

Congenital long QT syndrome with compound mutations in the KCNH2 gene.Semantic proximity Read ↗

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.Semantic proximity Read ↗

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