ReviewJournal of human genetics2016
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
Review in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- New insights into the physiological, pathological and pharmacological roles of voltage‑gated potassium channel Kv10.1 in cancer (Review).International journal of oncology · 2026Review
- Crosstalk of KCNH1 and KCNH5 gain-of-function mutations leading to epilepsy and neurodevelopmental disorders.Molecular brain · 2026Article
- The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.Brain : a journal of neurology · 2026Review
- Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.Neurogenetics · 2025Article
- Article
- Computational prognostic evaluation of Alzheimer's drugs from FDA-approved database through structural conformational dynamics and drug repositioning approaches.Scientific reports · 2023Article
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofNeurology · 2023Article
- Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.CNS neuroscience & therapeutics · 2023Article
- A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.Biomolecules · 2022Article
- Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.Molecular neurobiology · 2022Article
- Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.Human genetics · 2022Review
- Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of KEuropean journal of human genetics : EJHG · 2021Article
- Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.Epilepsia · 2020Article
- Is KCNH1 mutation related to coronary artery ectasia.BMC cardiovascular disorders · 2019Article
- Antibodies Targeting KBioelectricity · 2019Article
- Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.Molecular genetics & genomic medicine · 2019Article
- Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance CaAmerican journal of human genetics · 2019Article
- Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.Journal of human genetics · 2019Article
- Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2018Article
- Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.Journal of human genetics · 2018Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The voltage-gated Kv10.1 potassium channel, also known as ether-a-go-go-related gene 1, encoded by KCNH1 (potassium voltage-gated channel, subfamily H (eag related), member 1) is predominantly expressed in the central nervous system. Recently, de novo missense KCNH1 mutations have been identified in six patients with Zimmermann-Laband syndrome and in four patients with Temple-Baraitser syndrome. These syndromes were historically considered distinct. Here we report three de novo missense KCNH1 mutations in four patients with syndromic developmental delay and epilepsy. Two novel KCNH1 mutations (p.R357Q and p.R357P), found in three patients, were located at the evolutionally highly conserved arginine in the channel voltage-sensor domain (S4). Another mutation (p.G496E) was found in the channel pore domain (S6) helix, which acts as a hinge in activation gating and mainly conducts non-inactivating outward potassium current. A previously reported p.G496R mutation was shown to produce no voltage-dependent outward current in CHO cells, suggesting that p.G496E may also disrupt the proper function of the Kv channel pore. Our report confirms that KCNH1 mutations are associated with syndromic neurodevelopmental disorder, and also support the functional importance of the S4 domain.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.