| A KCNC1-related neurological disorder due to gain of Kv3.1 function. | A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Clatot J, Ginn N, Costain G, Goldberg EM., Free PMC Article | 01/28/2023 |
| Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain. | Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.
Chi G, Liang Q, Sridhar A, Cowgill JB, Sader K, Radjainia M, Qian P, Castro-Hartmann P, Venkaya S, Singh NK, McKinley G, Fernandez-Cid A, Mukhopadhyay SMM, Burgess-Brown NA, Delemotte L, Covarrubias M, Dürr KL., Free PMC Article | 07/30/2022 |
| A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. | A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
Zhang Y, Ali SR, Nabbout R, Barcia G, Kaczmarek LK., Free PMC Article | 01/22/2022 |
| Methylation gene KCNC1 is associated with overall survival in patients with seminoma. | Methylation gene KCNC1 is associated with overall survival in patients with seminoma.
Chen S, Xiao L, Peng H, Wang Z, Xie J., Free PMC Article | 01/1/2022 |
| Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC. | 01/1/2022 |
| Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom. | Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom.
Maatoug S, Cheikh A, Khamessi O, Tabka H, Landoulsi Z, Guigonis JM, Diochot S, Bendahhou S, Benkhalifa R., Free PMC Article | 12/25/2021 |
| Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. | Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Carpenter JC, Männikkö R, Heffner C, Heneine J, Sampedro-Castañeda M, Lignani G, Schorge S., Free PMC Article | 10/2/2021 |
| First Evidence of Kv3.1b Potassium Channel Subtype Expression during Neuronal Serotonergic 1C11 Cell Line Development. | First Evidence of Kv3.1b Potassium Channel Subtype Expression during Neuronal Serotonergic 1C11 Cell Line Development.
Tabka H, Cheikh A, Maatoug S, Ayeb ME, Bendahhou S, Benkhalifa R., Free PMC Article | 03/6/2021 |
| Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. | Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.
Stern S, Sarkar A, Stern T, Mei A, Mendes APD, Stern Y, Goldberg G, Galor D, Nguyen T, Randolph-Moore L, Kim Y, Rouleau G, Bang A, Alda M, Santos R, Marchetto MC, Gage FH., Free PMC Article | 01/16/2021 |
| Authors 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). | KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB., Free PMC Article | 05/16/2020 |
| polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca(2+) regulation of Kv4 channels | A polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca(2+) regulation of Kv4 channels.
Murphy JG, Hoffman DA., Free PMC Article | 05/25/2019 |
| A recurrent de novo mutation in KCNC1 (c.959G>A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy. This recurrent mutation in KCNC1 was identified in the two brothers who showed characteristic features of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). The asymptomatic mother was suspected as being mosaic for this mutation. | Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.
Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. | 09/8/2018 |
| KNCN1 p.R320H mutation causes MEAK syndrome. | Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. | 07/22/2017 |
| A nonsense variant in KCNC1 gene was identified in three family members with intellectual disability without seizures. | Loss of Function of KCNC1 is associated with intellectual disability without seizures.
Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T., Free PMC Article | 04/29/2017 |
| reviews the phenotype/genotype of progressive myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK)associated with KCNC1 mutations [review] | Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
Nascimento FA, Andrade DM. | 03/18/2017 |
| KCNC1 produces a resurgent current during repolarization, ensuring enough repolarizing power to terminate each action potential. The current results from a combination of steep voltage-dependent gating kinetics and ultra-fast voltage-sensor relaxation. | Kv3.1 uses a timely resurgent K(+) current to secure action potential repolarization.
Labro AJ, Priest MF, Lacroix JJ, Snyders DJ, Bezanilla F., Free PMC Article | 05/21/2016 |
| A recurrent KCNC1 de novo mutation, c.959G>A (p.Arg320His), is a new major cause for progressive myoclonus epilepsy. It has a dominant-negative loss-of-function effect. | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE., Free PMC Article | 03/21/2015 |
| Findings show a decrease in Kv3.1b channel protein in schizophrenia neocortex, a deficit that is restored by antipsychotic drugs | Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.
Yanagi M, Joho RH, Southcott SA, Shukla AA, Ghose S, Tamminga CA. | 01/24/2015 |
| Describes localization in mouse brain of two isoforms - the longer is called b and the shorter is called a. | Differential subcellular localization of the two alternatively spliced isoforms of the Kv3.1 potassium channel subunit in brain.
Ozaita A, Martone ME, Ellisman MH, Rudy B. | 10/7/2014 |
| Describes two rat isoforms of Kv3.1, alpha is the longer one and beta is the shorter one | Expression of the mRNAs for the Kv3.1 potassium channel gene in the adult and developing rat brain.
Perney TM, Marshall J, Martin KA, Hockfield S, Kaczmarek LK. | 10/7/2014 |
| KChIP4a suppresses A-type Kv4 current via ER retention and enhancement of Kv4 closed-state inactivation. | Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels.
Tang YQ, Liang P, Zhou J, Lu Y, Lei L, Bian X, Wang K., Free PMC Article | 08/10/2013 |
| Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole mouse brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present. | Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.
Boda E, Hoxha E, Pini A, Montarolo F, Tempia F. | 03/2/2013 |
| demonstrated that glycosylation was necessary for both DPP10 trafficking to the cell surface and functional interaction with Kv4 channels | N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels.
Cotella D, Radicke S, Cipriani V, Cavaletto M, Merlin S, Follenzi A, Ravens U, Wettwer E, Santoro C, Sblattero D. | 06/30/2012 |
| Kv3.1 channels are transported into axons by binding to kinesin I. | Kinesin I transports tetramerized Kv3 channels through the axon initial segment via direct binding.
Xu M, Gu Y, Barry J, Gu C., Free PMC Article | 01/1/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |