PubMed (GeneRIF) for id: 57582

Year	Number of Results
2012	2
2013	3
2014	7
2015	3
2016	5
2017	4
2018	3
2019	4
2021	3
2022	2
2023	1
2024	1

1

Coupling of Slack and Na_V1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development.

Yuan T, Wang Y, Jin Y, Yang H, Xu S, Zhang H, Chen Q, Li N, Ma X, Song H, Peng C, Geng Z, Dong J, Duan G, Sun Q, Yang Y, Yang F, Huang Z. Yuan T, et al. Elife. 2024 Jan 30;12:RP87559. doi: 10.7554/eLife.87559. Elife. 2024. PMID: 38289338 Free PMC article.

2

Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.

Hinckley CA, Zhu Z, Chu JH, Gubbels C, Danker T, Cherry JJ, Whelan CD, Engle SJ, Nguyen V. Hinckley CA, et al. Epilepsia. 2023 Aug;64(8):2126-2136. doi: 10.1111/epi.17648. Epub 2023 Jun 9. Epilepsia. 2023. PMID: 37177976

3

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

Rychkov GY, Shaukat Z, Lim CX, Hussain R, Roberts BJ, Bonardi CM, Rubboli G, Meaney BF, Whitney R, Møller RS, Ricos MG, Dibbens LM. Rychkov GY, et al. Int J Mol Sci. 2022 Dec 1;23(23):15133. doi: 10.3390/ijms232315133. Int J Mol Sci. 2022. PMID: 36499459 Free PMC article.

4

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.

Cherian C, Appendino JP, Ashtiani S, Federico P, Molnar CP, Kerr M, Khan A, Au PYB, Klein KM. Cherian C, et al. J Neurol. 2022 Apr;269(4):2162-2171. doi: 10.1007/s00415-021-10808-y. Epub 2021 Sep 19. J Neurol. 2022. PMID: 34537872

5

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611

6

Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.

Ikeda A, Ueda H, Matsui K, Iai M, Goto T. Ikeda A, et al. Pediatr Int. 2021 Mar;63(3):352-354. doi: 10.1111/ped.14427. Epub 2021 Mar 2. Pediatr Int. 2021. PMID: 33650128 No abstract available.

7

[Early infantile epileptic encephalopathy type 14: three cases of epilepsy in infancy with migrating focal seizures due to KCNT1 mutations].

Kholin AA, Zavadenko NN, Fedonyuk ID, Antonets AV, Mukhin KY, Malov AG, Vshivkov MI, Anisimov GV, Il'ina ES. Kholin AA, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(7. Vyp. 2):74-82. doi: 10.17116/hirurgia20190715. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31532594 Russian.

8

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R. Kuchenbuch M, et al. Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. Brain. 2019. PMID: 31532509 Free article.

9

An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K_Na Currents.

Quraishi IH, Stern S, Mangan KP, Zhang Y, Ali SR, Mercier MR, Marchetto MC, McLachlan MJ, Jones EM, Gage FH, Kaczmarek LK. Quraishi IH, et al. J Neurosci. 2019 Sep 11;39(37):7438-7449. doi: 10.1523/JNEUROSCI.1628-18.2019. Epub 2019 Jul 26. J Neurosci. 2019. PMID: 31350261 Free PMC article.

10

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

Rubboli G, Plazzi G, Picard F, Nobili L, Hirsch E, Chelly J, Prayson RA, Boutonnat J, Bramerio M, Kahane P, Dibbens LM, Gardella E, Baulac S, Møller RS. Rubboli G, et al. Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb. Ann Clin Transl Neurol. 2018. PMID: 30847371 Free PMC article.

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