PubMed for id: 3746

Year	Number of Results
1992	2
1993	1
1995	1
2002	3
2003	2
2004	1
2005	2
2006	1
2009	3
2010	2
2011	4
2012	3
2013	4
2014	3
2015	2
2016	1
2017	3
2018	1
2019	3
2020	3
2021	6
2022	2
2023	2
2024	0

1

A KCNC1-related neurological disorder due to gain of Kv3.1 function.

Clatot J, Ginn N, Costain G, Goldberg EM. Clatot J, et al. Ann Clin Transl Neurol. 2023 Jan;10(1):111-117. doi: 10.1002/acn3.51707. Epub 2022 Nov 23. Ann Clin Transl Neurol. 2023. PMID: 36419348 Free PMC article.

2

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. Chi G, et al. Nat Commun. 2022 Jul 15;13(1):4087. doi: 10.1038/s41467-022-29594-w. Nat Commun. 2022. PMID: 35840580 Free PMC article.

3

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. Maatoug S, et al. Int J Mol Sci. 2021 Nov 13;22(22):12290. doi: 10.3390/ijms222212290. Int J Mol Sci. 2021. PMID: 34830172 Free PMC article.

4

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. Zhang Y, et al. J Neurophysiol. 2021 Aug 1;126(2):532-539. doi: 10.1152/jn.00257.2021. Epub 2021 Jul 7. J Neurophysiol. 2021. PMID: 34232791 Free PMC article.

5

Methylation gene KCNC1 is associated with overall survival in patients with seminoma.

Chen S, Xiao L, Peng H, Wang Z, Xie J. Chen S, et al. Oncol Rep. 2021 May;45(5):73. doi: 10.3892/or.2021.8024. Epub 2021 Jun 9. Oncol Rep. 2021. PMID: 34105734 Free PMC article.

6

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.

Carpenter JC, Männikkö R, Heffner C, Heneine J, Sampedro-Castañeda M, Lignani G, Schorge S. Carpenter JC, et al. Epilepsia. 2021 May;62(5):1256-1267. doi: 10.1111/epi.16867. Epub 2021 Mar 18. Epilepsia. 2021. PMID: 33735526 Free PMC article.

7

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. Park J, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7. Ann Clin Transl Neurol. 2019. PMID: 31353862 Free PMC article.

8

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. Kim H, et al. Brain Dev. 2018 May;40(5):429-432. doi: 10.1016/j.braindev.2018.01.006. Epub 2018 Feb 8. Brain Dev. 2018. PMID: 29428275

9

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. Oliver KL, et al. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698

10

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K, Viot G, Lombardi L, Jauny C, Billuart P, Bienvenu T. Poirier K, et al. Eur J Hum Genet. 2017 May;25(5):560-564. doi: 10.1038/ejhg.2017.3. Epub 2017 Feb 1. Eur J Hum Genet. 2017. PMID: 28145425 Free PMC article.

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