| 1 | EPM7, KCNC1
|
| Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
|
| Barot N, Margiotta M, Nei M, Skidmore C.
|
| Epileptic Disord. Sep 24. doi: 10.1684/epd.2020.1197. Online ahead of print. 2020
|
| 2 | EPM7, KCNC1
|
| Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
|
| Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF.
|
| Ann Clin Transl Neurol. Jul;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1. 2019
|
| 3 | KCNC1
|
| Pharmacological rescue of mutated Kv3.1 ion-channel linked to progressive myoclonus epilepsies.
|
| Munch AS, Saljic A, Boddum K, Grunnet M, Hougaard C, Jespersen T.
|
| Eur J Pharmacol. Aug 15;833:255-262. doi: 10.1016/j.ejphar.2018.06.015. Epub 2018 Jun 9 2018
|
| 4 | KCNC1
|
| Loss of Function of KCNC1 is associated with intellectual disability without seizures.
|
| Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T.
|
| Eur J Hum Genet. May;25(5):560-564. doi: 10.1038/ejhg.2017.3. Epub 2017 Feb 1. 2017
|
| 5 | KCNC1
|
| Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
|
| Nascimento FA, Andrade DM.
|
| Epileptic Disord. Sep 1;18(S2):135-138. doi: 10.1684/epd.2016.0859 2016
|
| 6 | EPM7, KCNC1
|
| 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, Mřller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
|
| Nat Genet. Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17 2015
|
| 7 | KCNC1, KCNC2
|
| 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.
|
| Mol Psychiatry 19(5):573-9. doi: 10.1038/mp.2013.49.
2014
|
| 8 | KCNC1
|
| Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation.
|
| Yasuda T, Cuny H, Adams DJ.
|
| J Physiol. May 15;591(10):2579-91. doi: 10.1113/jphysiol.2012.249151. Epub 2013 Mar 11. 2013
|
| 9 | KCNC1, KCNIP3
|
| Expression and high glucose-mediated regulation of K+ channel interacting protein 3 (KChIP3) and KV4 channels in retinal Müller glial cells.
|
| Chavira-Suárez E, Sandoval A, Felix R, Lamas M.
|
| Biochem Biophys Res Commun 404(2):678-83. Epub 2010 Dec 11.
2011
|
| 10 | KCNC1
|
| Kinesin I transports tetramerized Kv3 channels through the axon initial segment via direct binding.
|
| Xu M, Gu Y, Barry J, Gu C.
|
| J Neurosci 30(47):15987-6001.
2010
|
| 11 | KCNC1
|
| Specific and rapid effects of acoustic stimulation on the tonotopic distribution of Kv3.1b potassium channels in the adult rat.
|
| Strumbos JG, Polley DB, Kaczmarek LK.
|
| Neuroscience 167(3):567-72. Epub 2010 Feb 26.
2010
|
| 12 | KCNC1
|
| Visual experience regulates Kv3.1b and Kv3.2 expression in developing rat visual cortex.
|
| Grabert J, Wahle P.
|
| Neuroscience 158(2):654-64. Epub 2008 Jul 25.
2009
|
| 13 | KCNC1, KCNC3
|
| Ablation of Kv3.1 and Kv3.3 potassium channels disrupts thalamocortical oscillations in vitro and in vivo.
|
| Espinosa F, Torres-Vega MA, Marks GA, Joho RH.
|
| J Neurosci 28(21):5570-81.
2008
|
| 14 | KCNC1
|
| The axon-dendrite targeting of Kv3 (Shaw) channels is determined by a targeting motif that associates with the T1 domain and ankyrin G.
|
| Xu M, Cao R, Xiao R, Zhu MX, Gu C.
|
| J Neurosci 27(51):14158-70.
2007
|
| 15 | KCNC1
|
| Characterization of N-glycosylation consensus sequences in the Kv3.1 channel.
|
| Brooks NL, Corey MJ, Schwalbe RA.
|
| FEBS J 273(14):3287-300. Epub 2006 Jun 19. 2006
|
| 16 | KCNC1
|
| K+ channel KV3.1 associates with OSP/claudin-11 and regulates oligodendrocyte development.
|
| Tiwari-Woodruff S, Beltran-Parrazal L, Charles A, Keck T, Vu T, Bronstein J.
|
| Am J Physiol Cell Physiol 291(4):C687-98. Epub 2006 Apr 19.
2006
|
| 17 | KCNC1
|
| Localization and function of the Kv3.1b subunit in the rat medulla oblongata: focus on the nucleus tractus solitarii.
|
| Dallas ML, Atkinson L, Milligan CJ, Morris NP, Lewis DI, Deuchars SA, Deuchars J.
|
| J Physiol 562(Pt 3):655-72. Epub 2004 Nov 4.
2005
|
| 18 | KCNA1, KCNA4, KCNC1
|
| Genomic organization, nucleotide sequence, biophysical properties, and localization of the voltage-gated K+ channel gene KCNA4/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-p15.2 and KCNA1/Kv1.1 to human 12p13.
|
| Wymore RS, et al.
|
| Genomics 20 : 191-202. 1994
|
| 19 | KCNC1
|
| Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15.
|
| Ried T, et al.
|
| Genomics 15 : 405-411. 1993
|