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

Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy

7 Jul 2022

Abstract excerpt

The voltage-gated Kv10.2 potassium channel, encoded by KCNH5, is broadly expressed in mammalian tissues, including the brain. Its potential mechanism remains unclear. According to previous studies, dysfunction of Kv10.2 may be associated with epileptic encephalopathies and autism spectrum disorder (ASD). To date, only one disease-causing mutation of KCNH5 has been reported, and it involves a case that presented...

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 Ion channel regulation and function
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35874597
DOI: 10.3389/fped.2022.858008

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

Clinical Feature, Treatment, and KCNH5 Mutations in EpilepsyPMID 35874597Read ↗

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

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

Voltage-gated potassium channels and genetic epilepsySemantic proximity Read ↗

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

Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genesSemantic proximity Read ↗

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Semantic proximity Read ↗

Potassium channels and epilepsy.Semantic proximity Read ↗

Clinical and functional study of two de novo variations of CDKL5 gene.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese childrenSemantic proximity Read ↗

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

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.Semantic proximity Read ↗

Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.Semantic proximity Read ↗

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