On the public citation graph
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
0 signed · 86 inferred · view as graph
Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.
Is this your work? Sign in with ORCID and put your name on the
claims that are yours.
Reference health. See whether every reference in this work resolves to a
known work and none has been retracted — and get a dated CiteStamped
badge you can embed.
What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/(sici)1097-4695(199810)37:1<69::aid-neu6>3.0.co;2-6openalex-snapshot
When, where, and how much? Expression of the Kv3.1 potassium channel in high-frequency firing neurons
inferredcites →https://doi.org/10.1002/acn3.50822openalex-snapshot
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
inferredcites →https://doi.org/10.1002/ana.24929openalex-snapshot
Myoclonus epilepsy and ataxia due to KCNC 1 mutation: Analysis of 20 cases and K + channel properties
inferredcites →https://doi.org/10.1007/s12031-011-9648-6openalex-snapshot
Brain Expression of Kv3 Subunits During Development, Adulthood and Aging and in a Murine Model of Alzheimer’s Disease
inferredcites →https://doi.org/10.1016/j.ajhg.2009.03.010openalex-snapshot
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
inferredcites →https://doi.org/10.1016/j.brainres.2009.09.046openalex-snapshot
Increase of Kv3.1b expression in avian auditory brainstem neurons correlates with synaptogenesis in vivo and in vitro
inferredcites →https://doi.org/10.1016/j.heares.2006.01.012openalex-snapshot
Development of synapses and expression of a voltage-gated potassium channel in chick embryonic auditory nuclei
inferredcites →https://doi.org/10.1016/j.nurt.2007.01.010openalex-snapshot
Episodic Ataxia Type 1: A Neuronal Potassium Channelopathy
inferredcites →https://doi.org/10.1016/s0014-5793(97)00700-xopenalex-snapshot
P2X7 purinoceptor expression in Xenopus oocytes is not sufficient to produce a pore‐forming P2Z‐like phenotype
inferredcites →https://doi.org/10.1016/s0166-2236(00)01892-0openalex-snapshot
Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing
inferredcites →https://doi.org/10.1038/ejhg.2013.243openalex-snapshot
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
inferredcites →https://doi.org/10.1038/ejhg.2017.3openalex-snapshot
Loss of Function of KCNC1 is associated with intellectual disability without seizures
inferredcites →https://doi.org/10.1038/ng.3144openalex-snapshot
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1038/nn1019openalex-snapshot
Kv3.4 subunits enhance the repolarizing efficiency of Kv3.1 channels in fast-spiking neurons
inferredcites →https://doi.org/10.1042/bj20130034openalex-snapshot
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface
inferredcites →https://doi.org/10.1073/pnas.94.4.1533openalex-snapshot
Pleiotropic effects of a disrupted K + channel gene: Reduced body weight, impaired motor skill and muscle contraction, but no seizures
inferredcites →https://doi.org/10.1101/cshperspect.a022871openalex-snapshot
Potassium Channels in Epilepsy
inferredcites →https://doi.org/10.1111/epi.13709openalex-snapshot
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
inferredcites →https://doi.org/10.1111/j.0953-816x.2004.03385.xopenalex-snapshot
Allele‐dependent changes of olivocerebellar circuit properties in the absence of the voltage‐gated potassium channels Kv3.1 and Kv3.3
inferredcites →https://doi.org/10.1111/j.1469-8749.2011.04032.xopenalex-snapshot
The Deciphering Developmental Disorders (DDD) study
inferredcites →https://doi.org/10.1113/jp271343openalex-snapshot
Kv3.3 potassium channels and spinocerebellar ataxia
inferredcites →https://doi.org/10.1113/jphysiol.2012.228205openalex-snapshot
Altered Kv3.3 channel gating in early‐onset spinocerebellar ataxia type 13
inferredcites →https://doi.org/10.1113/jphysiol.2012.249151openalex-snapshot
Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation
inferredcites →https://doi.org/10.1124/pr.116.012864openalex-snapshot
International Union of Basic and Clinical Pharmacology. C. Nomenclature and Properties of Calcium-Activated and Sodium-Activated Potassium Channels
inferredcites →https://doi.org/10.1126/science.1116270openalex-snapshot
Voltage Sensor of Kv1.2: Structural Basis of Electromechanical Coupling
inferredcites →https://doi.org/10.1152/jn.1992.68.3.756openalex-snapshot
Expression of the mRNAs for the Kv3.1 potassium channel gene in the adult and developing rat brain
inferredcites →https://doi.org/10.1523/jneurosci.14-03-00949.1994openalex-snapshot
Differential expression of Shaw-related K+ channels in the rat central nervous system
inferredcites →https://doi.org/10.1523/jneurosci.21-17-06657.2001openalex-snapshot
Alcohol Hypersensitivity, Increased Locomotion, and Spontaneous Myoclonus in Mice Lacking the Potassium Channels Kv3.1 and Kv3.3
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4809639openalex-extracted
Functional Evaluation of a Kcnt1 Variant Associated with Epilepsy in Rat
inferred← citeshttps://doi.org/10.1002/acn3.51707openalex-snapshot
A KCNC1‐related neurological disorder due to gain of Kv3.1 function
inferred← citeshttps://doi.org/10.1002/ajmg.a.62455openalex-snapshot
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy
inferred← citeshttps://doi.org/10.1002/epi.70511openalex-snapshot
Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model
inferred← citeshttps://doi.org/10.1002/epi4.12934openalex-snapshot
Potassium channel‐related epilepsy: Pathogenesis and clinical features
inferred← citeshttps://doi.org/10.1002/jdn.10263openalex-snapshot
Novel KCNC2 variant associated with developmental and epileptic encephalopathy
inferred← citeshttps://doi.org/10.1007/s00415-024-12352-xopenalex-snapshot
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights
inferred← citeshttps://doi.org/10.1007/s12551-023-01163-5openalex-snapshot
Adam, amigo, brain, and K channel
inferred← citeshttps://doi.org/10.1007/s13760-021-01645-xopenalex-snapshot
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy
inferred← citeshttps://doi.org/10.1016/b978-0-443-10944-7.00053-6openalex-snapshot
Emerging Gene-Based Pathways: Channelopathies (Epilepsy and Beyond)
inferred← citeshttps://doi.org/10.1016/b978-0-443-29808-0.00060-1openalex-snapshot
Targeting voltage-gated potassium channels for the treatment of genetic epilepsy
inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.03.013openalex-snapshot
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
inferred← citeshttps://doi.org/10.1016/j.clineuro.2024.108673openalex-snapshot
Clinical, etiological, and therapeutic profile of early-onset absence seizures: A case series analysis
inferred← citeshttps://doi.org/10.1016/j.ebiom.2022.104115openalex-snapshot
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104531openalex-snapshot
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
inferred← citeshttps://doi.org/10.1016/j.ejpn.2019.12.002openalex-snapshot
Genetic potassium channel-associated epilepsies: Clinical review of the Kv family
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2023.105301openalex-snapshot
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2024.105897openalex-snapshot
Discovering functional interactions among schizophrenia-risk genes by combining behavioral genetics with cell biology
inferred← citeshttps://doi.org/10.1016/j.neuropharm.2025.110483openalex-snapshot
Structural insights into the function, dysfunction and modulation of Kv3 channels
inferred← citeshttps://doi.org/10.1016/j.xcrm.2024.101425openalex-snapshot
Opening the KV3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?
inferred← citeshttps://doi.org/10.1021/acsmedchemlett.6c00272openalex-snapshot
Optimization of Pyrazole-Based Activators of Kv3.1
inferred← citeshttps://doi.org/10.1038/s41380-023-02286-7openalex-snapshot
A cytoskeleton-membrane interaction conserved in fast-spiking neurons controls movement, emotion, and memory
inferred← citeshttps://doi.org/10.1038/s41467-022-31537-4openalex-snapshot
Timing is everything: structural insights into the disease-linked Kv3 channels controlling fast action-potential firing in the brain
inferred← citeshttps://doi.org/10.1073/pnas.2307776121openalex-snapshot
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction
inferred← citeshttps://doi.org/10.1073/pnas.2424514123openalex-snapshot
A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel
inferred← citeshttps://doi.org/10.1080/14728222.2021.1908263openalex-snapshot
Potassium channels as prominent targets and tools for the treatment of epilepsy
inferred← citeshttps://doi.org/10.1085/jgp.202513962openalex-snapshot
An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect
inferred← citeshttps://doi.org/10.1093/oxfordhb/9780190669164.013.13openalex-snapshot
Potassium Channel Mutations in Epilepsy
inferred← citeshttps://doi.org/10.1093/toxsci/kfad087openalex-snapshot
An integrated approach for early in vitro seizure prediction utilizing hiPSC neurons and human ion channel assays
inferred← citeshttps://doi.org/10.1111/acel.14185openalex-snapshot
Oxidative stress‐related cellular aging causes dysfunction of the Kv3.1/ KCNC1 channel reverted by melatonin
inferred← citeshttps://doi.org/10.1111/epi.16867openalex-snapshot
Progressive myoclonus epilepsyKCNC1variant causes a developmental dendritopathy
inferred← citeshttps://doi.org/10.1111/epi.17656openalex-snapshot
A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: “Precision medicine” approach with fluoxetine
inferred← citeshttps://doi.org/10.1111/jnc.15168openalex-snapshot
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy
inferred← citeshttps://doi.org/10.1152/ajpcell.00239.2026openalex-snapshot
Discovery of Kv3.1 channel inhibitors reveals VU0521426 as a state-dependent inactivator preferentially active against pathogenic gain-of-function mutants
inferred← citeshttps://doi.org/10.1152/jn.00257.2021openalex-snapshot
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation
inferred← citeshttps://doi.org/10.1152/physrev.00063.2021openalex-snapshot
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
inferred← citeshttps://doi.org/10.1186/s12883-024-03625-zopenalex-snapshot
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
inferred← citeshttps://doi.org/10.1186/s12883-026-04677-zopenalex-snapshot
A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review
inferred← citeshttps://doi.org/10.1684/epd.2020.1197openalex-snapshot
Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature
inferred← citeshttps://doi.org/10.21037/atm-21-1885openalex-snapshot
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes
inferred← citeshttps://doi.org/10.2174/1871527322666221227112621openalex-snapshot
Role of Potassium Ion Channels in Epilepsy: Focus on Current Therapeutic Strategies
inferred← citeshttps://doi.org/10.3389/fgene.2020.00614openalex-snapshot
Intellectual Disability and Potassium Channelopathies: A Systematic Review
inferred← citeshttps://doi.org/10.3389/fncel.2024.1449151openalex-snapshot
Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders
inferred← citeshttps://doi.org/10.3389/fncel.2024.1512365openalex-snapshot
Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes
inferred← citeshttps://doi.org/10.3389/fneur.2020.00612openalex-snapshot
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
inferred← citeshttps://doi.org/10.3389/fneur.2024.1466075openalex-snapshot
Voltage-gated potassium channels and genetic epilepsy
inferred← citeshttps://doi.org/10.3988/jcn.2023.0435openalex-snapshot
Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy
inferred← citeshttps://doi.org/10.6084/m9.figshare.25893744openalex-snapshot
Additional file 1 of Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
inferred← citeshttps://doi.org/10.6084/m9.figshare.25893866openalex-snapshot
Additional file 2 of Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
inferred← citeshttps://doi.org/10.7554/elife.103784openalex-snapshot
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
inferred← citeshttps://doi.org/10.7554/elife.103784.1openalex-snapshot
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
inferred← citeshttps://doi.org/10.7554/elife.103784.2openalex-snapshot
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
inferred← citeshttps://doi.org/10.7554/elife.103784.3openalex-snapshot
Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy
showing the first 57 of 58 · page through all 58
Editorial review for independent work. ICSAC — the Institute for Complexity
Science and Advanced Computing — runs a structured editorial panel for researchers
publishing outside journals, and publishes on CiteStamp rails. Submission is free
and goes through ORCID: icsacinstitute.org/submit.