ArticleAnnals of clinical and translational neurology2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect.The Journal of general physiology · 2026Article
- Discovery of Kv3.1 channel inhibitors reveals VU0521426 as a state-dependent inactivator preferentially active against pathogenic gain-of-function mutants.American journal of physiology. Cell physiology · 2026Article
- AProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.BMC neurology · 2026Review
- Structural insights into the function, dysfunction and modulation of Kv3 channels.Neuropharmacology · 2025Review
- Discovering functional interactions among schizophrenia-risk genes by combining behavioral genetics with cell biology.Neuroscience and biobehavioral reviews · 2024Review
- Review
- Potassium channel-related epilepsy: Pathogenesis and clinical features.Epilepsia open · 2024Review
- Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.BMC neurology · 2024Article
- A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children.NPJ science of learning · 2024Article
- A structurally precise mechanism links an epilepsy-associatedProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Voltage-gated potassium channels and genetic epilepsy.Frontiers in neurology · 2024Review
- Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.Frontiers in cellular neuroscience · 2024Review
- Cross-continental environmental and genome-wide association study on children and adolescent anxiety and depression.Frontiers in psychiatry · 2024Article
- A Pathogenic Missense Mutation in Kainate Receptors Elevates Dendritic Excitability and Synaptic Integration through Dysregulation of SK Channels.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.Neurobiology of disease · 2023Review
- A cytoskeleton-membrane interaction conserved in fast-spiking neurons controls movement, emotion, and memory.Molecular psychiatry · 2023Article
- Machine learning reveals common transcriptomic signatures across rat brain and placenta following developmental organophosphate ester exposure.Toxicological sciences : an official journal of the Society of Toxicology · 2023Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 2 countries.
Funding
Abstract
A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). Functional analyses demonstrated no measurable currents for all identified variants and dominant-negative effects for p.Thr399Met and p.Ala421Val predicting neuronal disinhibition as the underlying disease mechanism.
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Registered trials
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.