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Items: 1 to 20 of 114

1.

Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.

Gertler TS, Thompson CH, Vanoye CG, Millichap JJ, George AL Jr.

Ann Clin Transl Neurol. 2019 Sep;6(9):1606-1615. doi: 10.1002/acn3.50847. Epub 2019 Jul 15.

2.

[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.

Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(7. Vyp. 2):74-82. doi: 10.17116/jnevro201911907274. Russian.

PMID:
31532594
3.

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.

Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240.

PMID:
31532509
4.

Sodium-activated potassium channels moderate excitability in vascular smooth muscle.

Li P, Halabi CM, Stewart R, Butler A, Brown B, Xia X, Santi C, England S, Ferreira J, Mecham RP, Salkoff L.

J Physiol. 2019 Aug 24. doi: 10.1113/JP278279. [Epub ahead of print]

PMID:
31444905
5.

Concurrent Quinidine and Phenobarbital in the Treatment of a Patient with 2 KCNT1 Mutations.

Passey CC, Erramouspe J, Castellanos P, O'Donnell EC, Denton DM.

Curr Ther Res Clin Exp. 2019 Feb 28;90:106-108. doi: 10.1016/j.curtheres.2019.02.002. eCollection 2019.

6.
7.

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

Quraishi IH, Stern S, Mangan KP, Zhang Y, Ali SR, Mercier MR, Marchetto MC, McLachlan MJ, Jones EM, Gage FH, Kaczmarek LK.

J Neurosci. 2019 Sep 11;39(37):7438-7449. doi: 10.1523/JNEUROSCI.1628-18.2019. Epub 2019 Jul 26.

PMID:
31350261
8.

Genetics of neonatal-onset epilepsies.

Cornet MC, Cilio MR.

Handb Clin Neurol. 2019;162:415-433. doi: 10.1016/B978-0-444-64029-1.00020-5.

PMID:
31324323
9.

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.

Datta AN, Michoulas A, Guella I; EPGEN Study, Demos M.

J Child Neurol. 2019 Oct;34(12):728-734. doi: 10.1177/0883073819854853. Epub 2019 Jun 17.

PMID:
31208268
10.

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Routier L, Verny F, Barcia G, Chemaly N, Desguerre I, Colleaux L, Nabbout R.

Clin Genet. 2019 Sep;96(3):254-260. doi: 10.1111/cge.13581. Epub 2019 Jun 6.

PMID:
31170314
11.

Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3].

Abdelnour E, Gallentine W, McDonald M, Sachdev M, Jiang YH, Mikati MA.

Seizure. 2019 Jul;69:305. doi: 10.1016/j.seizure.2019.04.014. Epub 2019 May 6. No abstract available.

PMID:
31072785
12.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP, Fiannacca M, Smith DM, Gertler TS, Gunning B, Syrbe S, Verbeek N, Stamberger H, Weckhuysen S, Ceulemans B, Schoonjans AS, Rossi M, Demarquay G, Lesca G, Olofsson K, Koolen DA, Hornemann F, Baulac S, Rubboli G, Minks KQ, Lee B, Helbig I, Dlugos D, Møller RS, Bearden D.

Neurotherapeutics. 2019 Jul;16(3):848-857. doi: 10.1007/s13311-019-00739-y.

PMID:
31054119
13.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A.

JAMA Netw Open. 2019 Apr 5;2(4):e192129. doi: 10.1001/jamanetworkopen.2019.2129.

14.

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Cataldi M, Nobili L, Zara F, Combi R, Prato G, Giacomini T, Capra V, De Marco P, Ferini-Strambi L, Mancardi MM.

Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7. No abstract available.

PMID:
30903923
15.

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

Tsang MH, Leung GK, Ho AC, Yeung KS, Mak CC, Pei SL, Yu MH, Kan AS, Chan KY, Kwong KL, Lee SL, Yung AW, Fung CW, Chung BH.

Epilepsia Open. 2018 Dec 6;4(1):63-72. doi: 10.1002/epi4.12282. eCollection 2019 Mar.

16.

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.

Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb.

17.

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Villa C, Colombo G, Meneghini S, Gotti C, Moretti M, Ferini-Strambi L, Chisci E, Giovannoni R, Becchetti A, Combi R.

Front Mol Neurosci. 2019 Feb 12;12:17. doi: 10.3389/fnmol.2019.00017. eCollection 2019.

18.

Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.

Jia Y, Lin Y, Li J, Li M, Zhang Y, Hou Y, Liu A, Zhang L, Li L, Xiang P, Ye J, Huang Z, Wang Y.

Front Neurol. 2019 Feb 5;10:64. doi: 10.3389/fneur.2019.00064. eCollection 2019.

19.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y.

Epileptic Disord. 2019 Feb 1;21(1):48-54. doi: 10.1684/epd.2019.1026.

PMID:
30782581
20.

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint Martin A, Hirsch E, Dubois F, Laroche C, Barcia G, Chemaly N, Milh M, Villeneuve N, Sauleau P, Modolo J, Wendling F, Nabbout R.

Epilepsia. 2019 Jan;60(1):20-32. doi: 10.1111/epi.14605. Epub 2018 Dec 7.

PMID:
30525185

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