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

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

18 May 2022

Abstract excerpt

Six novel de novo human KCNQ5 variants were identified from children with neurodevelopmental delay, intellectual disability, and/or epilepsy. Expression of these variants along with four previously reported KCNQ5 variants from a similar cohort revealed GOF potassium channels, negatively shifted in V50 of activation and/or delayed deactivation kinetics. GOF is extended to KCNQ5/3 heteromeric channels, making these...

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 Genetics and Neurodevelopmental Disorders
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35583973
DOI: 10.1152/jn.00509.2021

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disabilityPMID 35583973Read ↗

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

Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.Semantic proximity Read ↗

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.Semantic proximity Read ↗

Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsySemantic proximity Read ↗

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia RiskSemantic proximity Read ↗

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.Semantic proximity Read ↗

Loss-of-function variants in the <i>KCNQ5</i> gene are associated with genetic generalized epilepsiesSemantic proximity Read ↗

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsSemantic proximity Read ↗

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

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesSemantic proximity Read ↗

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.Semantic proximity Read ↗

High-throughput Evaluation of Epilepsy-associated <i>KCNQ2</i> Variants Reveals Functional and Pharmacological HeterogeneitySemantic proximity Read ↗

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