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

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.

Genes - 21 Jan 2021

von Wrede Randi, Jeub Monika, Ariöz Idil, Elger Christian E, von Voss Hubertus, Klein Hanns-Georg, Becker Albert J, Schoch Susanne, Surges Rainer, Kunz Wolfram S

Abstract excerpt

Here, we describe four patients suffering from a rather broad spectrum of epilepsy-related disorders, ranging from developmental and epileptic encephalopathy with intellectual disability (DEE) to genetic generalized epilepsy (GGE), which all harbor novel KCNH1 mutations. In one family, we found a weak association of a novel nonsense mutation with epilepsy, suggesting reduced penetrance, and which shows, in...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Ether-A-Go-Go Potassium Channels

Share to Exome Sequencing

Share to Germ-Line Mutation

Share to Magnetic Resonance Imaging

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 33494179
DOI: 10.3390/genes12020132
PMCID: PMC7909785

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

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.PMID 33494179Read ↗

Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.Semantic proximity Read ↗

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

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

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.Semantic proximity Read ↗

Potassium Channel Gain of Function in Epilepsy: An Unresolved ParadoxSemantic proximity Read ↗

<i>KCNH1</i> variants associated with neurodevelopmental disorders exhibit prominent gain-of-functionSemantic proximity Read ↗

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.Semantic proximity Read ↗

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.Semantic proximity Read ↗

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureSemantic proximity Read ↗

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Semantic proximity Read ↗

Voltage-gated potassium channels and genetic epilepsySemantic proximity Read ↗

Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.Semantic proximity Read ↗

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