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Items: 1 to 20 of 284

1.

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.

Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL Jr, Rognum TO.

Forensic Sci Med Pathol. 2018 Jun 8. doi: 10.1007/s12024-018-9989-3. [Epub ahead of print]

PMID:
29881912
2.

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.

Baker EM, Thompson CH, Hawkins NA, Wagnon JL, Wengert ER, Patel MK, George AL Jr, Meisler MH, Kearney JA.

Epilepsia. 2018 Jun;59(6):1166-1176. doi: 10.1111/epi.14196. Epub 2018 May 21.

PMID:
29782051
3.

Progress in Understanding and Treating SCN2A-Mediated Disorders.

Sanders SJ, Campbell AJ, Cottrell JR, Moller RS, Wagner FF, Auldridge AL, Bernier RA, Catterall WA, Chung WK, Empfield JR, George AL Jr, Hipp JF, Khwaja O, Kiskinis E, Lal D, Malhotra D, Millichap JJ, Otis TS, Petrou S, Pitt G, Schust LF, Taylor CM, Tjernagel J, Spiro JE, Bender KJ.

Trends Neurosci. 2018 Jul;41(7):442-456. doi: 10.1016/j.tins.2018.03.011. Epub 2018 Apr 23. Review.

PMID:
29691040
4.

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.

Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL Jr, Chazin WJ.

Structure. 2018 May 1;26(5):683-694.e3. doi: 10.1016/j.str.2018.03.005. Epub 2018 Apr 5.

PMID:
29606593
5.

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.

Neurobiol Dis. 2018 Jul;115:29-38. doi: 10.1016/j.nbd.2018.03.009. Epub 2018 Mar 19.

PMID:
29567111
6.

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Huang H, Kuenze G, Smith JA, Taylor KC, Duran AM, Hadziselimovic A, Meiler J, Vanoye CG, George AL Jr, Sanders CR.

Sci Adv. 2018 Mar 7;4(3):eaar2631. doi: 10.1126/sciadv.aar2631. eCollection 2018 Mar.

7.

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

Chai S, Wan X, Ramirez-Navarro A, Tesar PJ, Kaufman ES, Ficker E, George AL Jr, Deschênes I.

J Clin Invest. 2018 Mar 1;128(3):1043-1056. doi: 10.1172/JCI94996. Epub 2018 Feb 12.

8.

Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.

Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George AL Jr, Mushiroda T, Klein T, Gammal RS, Pirmohamed M.

Clin Pharmacol Ther. 2018 Apr;103(4):574-581. doi: 10.1002/cpt.1004. Epub 2018 Feb 2.

PMID:
29392710
9.

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy.

Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.

Neurol Genet. 2017 Dec 11;3(6):e198. doi: 10.1212/NXG.0000000000000198. eCollection 2017 Dec.

10.

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Li B, Mendenhall JL, Kroncke BM, Taylor KC, Huang H, Smith DK, Vanoye CG, Blume JD, George AL Jr, Sanders CR, Meiler J.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001754. doi: 10.1161/CIRCGENETICS.117.001754.

PMID:
29021305
11.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N.

Genome Biol. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z.

12.

Treatment of calmodulinopathy with verapamil.

Webster G, Schoppen ZJ, George AL Jr.

BMJ Case Rep. 2017 Aug 7;2017. pii: bcr-2017-220568. doi: 10.1136/bcr-2017-220568.

PMID:
28784889
13.

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

Huang J, Vanoye CG, Cutts A, Goldberg YP, Dib-Hajj SD, Cohen CJ, Waxman SG, George AL Jr.

J Clin Invest. 2017 Jun 30;127(7):2805-2814. doi: 10.1172/JCI92373. Epub 2017 May 22.

14.

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy.

Hawkins NA, Anderson LL, Gertler TS, Laux L, George AL Jr, Kearney JA.

Ann Clin Transl Neurol. 2017 Apr 26;4(5):326-339. doi: 10.1002/acn3.413. eCollection 2017 May.

15.

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.

Anderson LL, Hawkins NA, Thompson CH, Kearney JA, George AL Jr.

Sci Rep. 2017 May 10;7(1):1682. doi: 10.1038/s41598-017-01851-9.

16.

Azithromycin Causes a Novel Proarrhythmic Syndrome.

Yang Z, Prinsen JK, Bersell KR, Shen W, Yermalitskaya L, Sidorova T, Luis PB, Hall L, Zhang W, Du L, Milne G, Tucker P, George AL Jr, Campbell CM, Pickett RA, Shaffer CM, Chopra N, Yang T, Knollmann BC, Roden DM, Murray KT.

Circ Arrhythm Electrophysiol. 2017 Apr;10(4). pii: e003560. doi: 10.1161/CIRCEP.115.003560.

17.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

18.

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Rocchetti M, Sala L, Dreizehnter L, Crotti L, Sinnecker D, Mura M, Pane LS, Altomare C, Torre E, Mostacciuolo G, Severi S, Porta A, De Ferrari GM, George AL Jr, Schwartz PJ, Gnecchi M, Moretti A, Zaza A.

Cardiovasc Res. 2017 Apr 1;113(5):531-541. doi: 10.1093/cvr/cvx006.

PMID:
28158429
19.

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice.

Thompson CH, Hawkins NA, Kearney JA, George AL Jr.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):1696-1701. doi: 10.1073/pnas.1615774114. Epub 2017 Jan 30.

20.

Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Kroncke BM, Van Horn WD, Smith J, Kang C, Welch RC, Song Y, Nannemann DP, Taylor KC, Sisco NJ, George AL Jr, Meiler J, Vanoye CG, Sanders CR.

Sci Adv. 2016 Sep 9;2(9):e1501228. doi: 10.1126/sciadv.1501228. eCollection 2016 Sep.

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