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Items: 1 to 20 of 109

1.

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S.

Ann Neurol. 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14.

PMID:
24591078
2.

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.

Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3.

PMID:
26140313
3.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM.

Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30.

PMID:
26122718
4.

Quinidine in the treatment of KCNT1-positive epilepsies.

Mikati MA, Jiang YH, Carboni M, Shashi V, Petrovski S, Spillmann R, Milligan CJ, Li M, Grefe A, McConkie A, Berkovic S, Scheffer I, Mullen S, Bonner M, Petrou S, Goldstein D.

Ann Neurol. 2015 Dec;78(6):995-9. doi: 10.1002/ana.24520. Epub 2015 Nov 18.

PMID:
26369628
5.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF.

Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.

PMID:
23647072
6.

Modulation of HERG potassium channels by extracellular magnesium and quinidine.

Po SS, Wang DW, Yang IC, Johnson JP Jr, Nie L, Bennett PB.

J Cardiovasc Pharmacol. 1999 Feb;33(2):181-5.

PMID:
10028924
7.

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.

Gene. 2013 Dec 1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10.

PMID:
24029078
8.

Targeted treatment of migrating partial seizures of infancy with quinidine.

Bearden D, Strong A, Ehnot J, DiGiovine M, Dlugos D, Goldberg EM.

Ann Neurol. 2014 Sep;76(3):457-61. doi: 10.1002/ana.24229. Epub 2014 Jul 26.

PMID:
25042079
9.

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.

Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ.

Pediatr Neurol. 2014 Jan;50(1):112-4. doi: 10.1016/j.pediatrneurol.2013.06.024. Epub 2013 Oct 10.

PMID:
24120652
10.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM.

Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.

PMID:
23086396
11.

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, Tufik S, Yu FH, Catterall WA, Mantegazza M, Goldin AL, Escayg A.

Neurobiol Dis. 2009 Jul;35(1):91-102. doi: 10.1016/j.nbd.2009.04.007. Epub 2009 May 3.

PMID:
19409490
12.

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

Lim CX, Ricos MG, Dibbens LM, Heron SE.

J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6. Review.

PMID:
26740507
13.

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.

Ishida S, Sakamoto Y, Nishio T, Baulac S, Kuwamura M, Ohno Y, Takizawa A, Kaneko S, Serikawa T, Mashimo T.

Brain Res. 2012 Jan 30;1435:154-66. doi: 10.1016/j.brainres.2011.11.023. Epub 2011 Nov 13.

PMID:
22206926
14.

Functional distinction of human EAG1 and EAG2 potassium channels.

Schönherr R, Gessner G, Löber K, Heinemann SH.

FEBS Lett. 2002 Mar 13;514(2-3):204-8.

PMID:
11943152
15.
16.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP.

Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4.

PMID:
25239001
17.

Block of mouse Slo1 and Slo3 K+ channels by CTX, IbTX, TEA, 4-AP and quinidine.

Tang QY, Zhang Z, Xia XM, Lingle CJ.

Channels (Austin). 2010 Jan-Feb;4(1):22-41. Epub 2010 Jan 2.

PMID:
19934650
18.

Kv1.4 channel block by quinidine: evidence for a drug-induced allosteric effect.

Wang S, Morales MJ, Qu YJ, Bett GC, Strauss HC, Rasmusson RL.

J Physiol. 2003 Jan 15;546(Pt 2):387-401.

PMID:
12527726
19.

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

Barela AJ, Waddy SP, Lickfett JG, Hunter J, Anido A, Helmers SL, Goldin AL, Escayg A.

J Neurosci. 2006 Mar 8;26(10):2714-23.

PMID:
16525050
20.

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

Francis DG, Rybalchenko V, Struyk A, Cannon SC.

Neurology. 2011 May 10;76(19):1635-41. doi: 10.1212/WNL.0b013e318219fb57. Epub 2011 Apr 13.

PMID:
21490317
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