ArticleAnnals of translational medicine2021
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.
Article in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- KFrontiers in pharmacology · 2026Pooled it
- AProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
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- Discovering functional interactions among schizophrenia-risk genes by combining behavioral genetics with cell biology.Neuroscience and biobehavioral reviews · 2024Review
- Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.Frontiers in cellular neuroscience · 2024Review
- Voltage-gated potassium channels and genetic epilepsy.Frontiers in neurology · 2024Review
- Identification of metabolism-related subtypes and feature genes in Alzheimer's disease.Journal of translational medicine · 2023Article
- A cytoskeleton-membrane interaction conserved in fast-spiking neurons controls movement, emotion, and memory.Molecular psychiatry · 2023Article
- Timing is everything: structural insights into the disease-linked Kv3 channels controlling fast action-potential firing in the brain.Nature communications · 2022Article
- Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.Nature communications · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKCNC1 encodes Kv3.1, a subunit of the Kv3 voltage-gated potassium channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar neurons. Kv3.1 channelopathy has been linked to a variety of human diseases including epilepsy, developmental delay, and ataxia. Characterization of structural and functional disturbances of this channel, and its relationship to a heterogenous group of clinical phenotypes, is a current topic of research. We herein characterize the clinical phenotype as well as the functional and structural consequences of the novel
methodsVariant was identified via whole-exome sequencing and its functional impact was determined using two-electrode voltage clamp recordings in
resultsWe identified a novel loss-of-function KCNC1 variant c.949C>A (p.R317S) presenting with symptoms similar to myoclonic epilepsy and ataxia due to potassium channel (MEAK), but with distinct radiological features. Functional analysis in the
conclusionsWe have identified the p.R317S loss-of-function variant in the
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Registered trials
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