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Items: 1 to 50 of 54

1.

Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model.

Chang BL, Leite M, Snowball A, Lieb A, Chabrol E, Walker MC, Kullmann DM, Schorge S, Wykes RC.

Dis Model Mech. 2018 Dec 14;11(12). pii: dmm036194. doi: 10.1242/dmm.036194.

2.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

PMID:
30033060
3.

Biochemical autoregulatory gene therapy for focal epilepsy.

Lieb A, Qiu Y, Dixon CL, Heller JP, Walker MC, Schorge S, Kullmann DM.

Nat Med. 2018 Sep;24(9):1324-1329. doi: 10.1038/s41591-018-0103-x. Epub 2018 Jul 9.

4.

Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA-134.

Morris G, Brennan GP, Reschke CR, Henshall DC, Schorge S.

Epilepsia. 2018 Aug;59(8):1518-1526. doi: 10.1111/epi.14475. Epub 2018 Jul 5.

5.

Spider toxin inhibits gating pore currents underlying periodic paralysis.

Männikkö R, Shenkarev ZO, Thor MG, Berkut AA, Myshkin MY, Paramonov AS, Kulbatskii DS, Kuzmin DA, Sampedro Castañeda M, King L, Wilson ER, Lyukmanova EN, Kirpichnikov MP, Schorge S, Bosmans F, Hanna MG, Kullmann DM, Vassilevski AA.

Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4495-4500. doi: 10.1073/pnas.1720185115. Epub 2018 Apr 10.

6.

Channelopathies go above and beyond the channels.

Schorge S.

Neuropharmacology. 2018 Apr;132:1-2. doi: 10.1016/j.neuropharm.2018.02.011. Epub 2018 Feb 14. No abstract available.

PMID:
29454019
7.

Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.

Rosenow F, van Alphen N, Becker A, Chiocchetti A, Deichmann R, Deller T, Freiman T, Freitag CM, Gehrig J, Hermsen AM, Jedlicka P, Kell C, Klein KM, Knake S, Kullmann DM, Liebner S, Norwood BA, Omigie D, Plate K, Reif A, Reif PS, Reiss Y, Roeper J, Ronellenfitsch MW, Schorge S, Schratt G, Schwarzacher SW, Steinbach JP, Strzelczyk A, Triesch J, Wagner M, Walker MC, von Wegner F, Bauer S.

Epilepsy Behav. 2017 Nov;76:13-18. doi: 10.1016/j.yebeh.2017.06.041. Epub 2017 Sep 13. Review.

PMID:
28917501
8.

Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.

Bauer S, van Alphen N, Becker A, Chiocchetti A, Deichmann R, Deller T, Freiman T, Freitag CM, Gehrig J, Hermsen AM, Jedlicka P, Kell C, Klein KM, Knake S, Kullmann DM, Liebner S, Norwood BA, Omigie D, Plate K, Reif A, Reif PS, Reiss Y, Roeper J, Ronellenfitsch MW, Schorge S, Schratt G, Schwarzacher SW, Steinbach JP, Strzelczyk A, Triesch J, Wagner M, Walker MC, von Wegner F, Rosenow F.

Epilepsy Behav. 2017 Nov;76:7-12. doi: 10.1016/j.yebeh.2017.06.040. Epub 2017 Sep 14. Review.

PMID:
28917498
9.

Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating.

Liavas A, Lignani G, Schorge S.

J Physiol. 2017 Aug 15;595(16):5671-5685. doi: 10.1113/JP274693. Epub 2017 Jul 18.

10.

Activity Clamp Provides Insights into Paradoxical Effects of the Anti-Seizure Drug Carbamazepine.

Morris G, Leite M, Kullmann DM, Pavlov I, Schorge S, Lignani G.

J Neurosci. 2017 May 31;37(22):5484-5495. doi: 10.1523/JNEUROSCI.3697-16.2017. Epub 2017 May 4.

11.

Potent Anti-seizure Effects of Locked Nucleic Acid Antagomirs Targeting miR-134 in Multiple Mouse and Rat Models of Epilepsy.

Reschke CR, Silva LF, Norwood BA, Senthilkumar K, Morris G, Sanz-Rodriguez A, Conroy RM, Costard L, Neubert V, Bauer S, Farrell MA, O'Brien DF, Delanty N, Schorge S, Pasterkamp RJ, Rosenow F, Henshall DC.

Mol Ther Nucleic Acids. 2017 Mar 17;6:45-56. doi: 10.1016/j.omtn.2016.11.002. Epub 2016 Dec 10.

12.

MicroRNAs in epilepsy: pathophysiology and clinical utility.

Henshall DC, Hamer HM, Pasterkamp RJ, Goldstein DB, Kjems J, Prehn JHM, Schorge S, Lamottke K, Rosenow F.

Lancet Neurol. 2016 Dec;15(13):1368-1376. doi: 10.1016/S1474-4422(16)30246-0. Review.

PMID:
27839653
13.

Erratum to "Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability" [FEBS Lett. 589 (2015) 1620-1634].

Snowball A, Schorge S.

FEBS Lett. 2015 Aug 19;589(18):2429. doi: 10.1016/j.febslet.2015.07.001. No abstract available.

14.

Lentiviral expression of GAD67 and CCK promoter-driven opsins to target interneurons in vitro and in vivo.

Mantoan Ritter L, Macdonald DC, Ritter G, Escors D, Chiara F, Cariboni A, Schorge S, Kullmann DM, Collins M.

J Gene Med. 2016 Jan-Mar;18(1-3):27-37. doi: 10.1002/jgm.2873.

PMID:
26824337
15.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA.

Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038.

16.

Tracks through the genome to physiological events.

Lipscombe D, Pan JQ, Schorge S.

Exp Physiol. 2015 Dec;100(12):1429-40. doi: 10.1113/EP085129. Epub 2015 Jul 19. Review.

17.

Changing channels in pain and epilepsy: Exploiting ion channel gene therapy for disorders of neuronal hyperexcitability.

Snowball A, Schorge S.

FEBS Lett. 2015 Jun 22;589(14):1620-34. doi: 10.1016/j.febslet.2015.05.004. Epub 2015 May 12. Review. Erratum in: FEBS Lett. 2015 Aug 19;589(18):2429. FEBS Lett. 2015 Aug 19;589(18):2429.

18.

From treatment to cure: stopping seizures, preventing seizures, and reducing brain propensity to seize.

Pavlov I, Schorge S.

Int Rev Neurobiol. 2014;114:279-99. doi: 10.1016/B978-0-12-418693-4.00011-X. Review.

PMID:
25078506
19.

Chemical-genetic attenuation of focal neocortical seizures.

Kätzel D, Nicholson E, Schorge S, Walker MC, Kullmann DM.

Nat Commun. 2014 May 27;5:3847. doi: 10.1038/ncomms4847.

20.

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium.

JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756.

21.

Gene therapy in epilepsy-is it time for clinical trials?

Kullmann DM, Schorge S, Walker MC, Wykes RC.

Nat Rev Neurol. 2014 May;10(5):300-4. doi: 10.1038/nrneurol.2014.43. Epub 2014 Mar 18. Review.

PMID:
24638133
22.

A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study.

Menzler K, Hermsen A, Balkenhol K, Duddek C, Bugiel H, Bauer S, Schorge S, Reif PS, Klein KM, Haag A, Oertel WH, Hamer HM, Knake S, Trucks H, Sander T, Rosenow F; EPICURE-Consortium.

Epilepsia. 2014 Feb;55(2):362-9. doi: 10.1111/epi.12515. Epub 2014 Jan 13.

23.

Gene therapy in status epilepticus.

Walker MC, Schorge S, Kullmann DM, Wykes RC, Heeroma JH, Mantoan L.

Epilepsia. 2013 Sep;54 Suppl 6:43-5. doi: 10.1111/epi.12275. Review.

24.

Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle.

Burge JA, Hanna MG, Schorge S.

Muscle Nerve. 2013 Oct;48(4):589-91. doi: 10.1002/mus.23887. Epub 2013 Aug 30.

25.

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG.

J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1107-12. doi: 10.1136/jnnp-2012-304131. Epub 2013 Jan 24.

26.

Tackling obstacles for gene therapy targeting neurons: disrupting perineural nets with hyaluronidase improves transduction.

Wanisch K, Kovac S, Schorge S.

PLoS One. 2013;8(1):e53269. doi: 10.1371/journal.pone.0053269. Epub 2013 Jan 3.

27.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

28.

Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy.

Wykes RC, Heeroma JH, Mantoan L, Zheng K, MacDonald DC, Deisseroth K, Hashemi KS, Walker MC, Schorge S, Kullmann DM.

Sci Transl Med. 2012 Nov 21;4(161):161ra152. doi: 10.1126/scitranslmed.3004190. Epub 2012 Nov 12.

29.

Splice variants of Na(V)1.7 sodium channels have distinct β subunit-dependent biophysical properties.

Farmer C, Cox JJ, Fletcher EV, Woods CG, Wood JN, Schorge S.

PLoS One. 2012;7(7):e41750. doi: 10.1371/journal.pone.0041750. Epub 2012 Jul 24.

30.

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG.

Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.

31.

Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.

Fletcher EV, Kullmann DM, Schorge S.

J Biol Chem. 2011 Oct 21;286(42):36700-8. doi: 10.1074/jbc.M111.250225. Epub 2011 Sep 2.

32.

Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias.

Rajakulendran S, Schorge S, Kullmann DM, Hanna MG.

F1000 Biol Rep. 2010 Jan 18;2. pii: 4. doi: 10.3410/B2-4.

33.

Sodium channel mutations and epilepsy: association and causation.

Schorge S, Kullmann DM.

Exp Neurol. 2010 Nov;226(1):8-10. doi: 10.1016/j.expneurol.2010.08.008. Epub 2010 Aug 13. No abstract available.

PMID:
20709059
34.

Molecular characterisation of post-bio-electrosprayed human brain astrocytoma cells.

Eddaoudi A, Townsend-Nicholson A, Timms JF, Schorge S, Jayasinghe SN.

Analyst. 2010 Oct;135(10):2600-12. doi: 10.1039/c0an00213e. Epub 2010 Aug 6.

PMID:
20694206
35.

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM.

Neurology. 2010 Jul 27;75(4):367-72. doi: 10.1212/WNL.0b013e3181ea9ee3.

36.

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J.

Trends Neurosci. 2010 May;33(5):211-9. doi: 10.1016/j.tins.2010.02.005. Epub 2010 Mar 11.

37.

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

Rajakulendran S, Graves TD, Labrum RW, Kotzadimitriou D, Eunson L, Davis MB, Davies R, Wood NW, Kullmann DM, Hanna MG, Schorge S.

J Physiol. 2010 Jun 1;588(Pt 11):1905-13. doi: 10.1113/jphysiol.2009.186437. Epub 2010 Feb 15.

38.

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.

Heeroma JH, Henneberger C, Rajakulendran S, Hanna MG, Schorge S, Kullmann DM.

Dis Model Mech. 2009 Nov-Dec;2(11-12):612-9. doi: 10.1242/dmm.003582. Epub 2009 Sep 24.

39.

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

Rajakulendran S, Tan SV, Matthews E, Tomlinson SE, Labrum R, Sud R, Kullmann DM, Schorge S, Hanna MG.

Neurology. 2009 Sep 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959. No abstract available.

40.

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

Labrum RW, Rajakulendran S, Graves TD, Eunson LH, Bevan R, Sweeney MG, Hammans SR, Tubridy N, Britton T, Carr LJ, Ostergaard JR, Kennedy CR, Al-Memar A, Kullmann DM, Schorge S, Temple K, Davis MB, Hanna MG.

J Med Genet. 2009 Nov;46(11):786-91. doi: 10.1136/jmg.2009.067967. Epub 2009 Jul 7.

PMID:
19586927
41.

Sodium channelopathy of peripheral nerve: tightening the genotype-phenotype relationship.

Schorge S, Kullmann DM.

Brain. 2009 Jul;132(Pt 7):1690-2. doi: 10.1093/brain/awp120. Epub 2009 May 8. No abstract available.

PMID:
19429904
42.

A self-activating intrinsic brake on bursting in CA3 neurons.

Schorge S, Walker MC.

J Physiol. 2009 Mar 15;587(Pt 6):1143-4. doi: 10.1113/jphysiol.2009.170027. No abstract available.

43.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG.

Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31.

44.

Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita.

Fialho D, Kullmann DM, Hanna MG, Schorge S.

Neuromuscul Disord. 2008 Nov;18(11):869-72. doi: 10.1016/j.nmd.2008.07.004. Epub 2008 Sep 23.

PMID:
18815035
45.

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG.

Brain. 2007 Dec;130(Pt 12):3265-74. Epub 2007 Oct 11.

PMID:
17932099
46.

Episodic ataxia type 1: a neuronal potassium channelopathy.

Rajakulendran S, Schorge S, Kullmann DM, Hanna MG.

Neurotherapeutics. 2007 Apr;4(2):258-66. Review.

PMID:
17395136
47.

Inherited erythermalgia moves a sodium channel into focus.

Schorge S, Ptácek LJ.

Neurology. 2006 Nov 14;67(9):1538-9. No abstract available. Erratum in: Neurology. 2008 Jan 15;70(3):244. Pácek, Louis J [corrected to Ptácek, Louis J].

PMID:
17101882
48.

Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path.

Scimemi A, Schorge S, Kullmann DM, Walker MC.

J Neurophysiol. 2006 Feb;95(2):1213-20. Epub 2005 Nov 9.

49.

Maximum likelihood fitting of single channel NMDA activity with a mechanism composed of independent dimers of subunits.

Schorge S, Elenes S, Colquhoun D.

J Physiol. 2005 Dec 1;569(Pt 2):395-418. Epub 2005 Oct 13.

50.

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB.

Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. Epub 2005 Apr 1.

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