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Items: 40

1.

Development of a rapid functional assay that predicts GLUT1 disease severity.

Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S.

Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec.

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.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D.

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129. No abstract available.

PMID:
29846532
4.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S.

Epilepsia Open. 2017 Aug 5;2(3):334-342. doi: 10.1002/epi4.12068. eCollection 2017 Sep.

5.

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456. Review.

6.

Gain-of-function HCN2 variants in genetic epilepsy.

Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand MS, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, Lerche H, Scheffer IE, Berkovic SF, Petrou S, Reid CA.

Hum Mutat. 2018 Feb;39(2):202-209. doi: 10.1002/humu.23357. Epub 2017 Nov 13.

PMID:
29064616
7.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.

Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236.

PMID:
29053855
8.

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

Maljevic S, Reid CA, Petrou S.

J Neurochem. 2017 Oct;143(1):30-48. doi: 10.1111/jnc.14134. Epub 2017 Sep 5. Review.

9.

SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model.

Lösing P, Niturad CE, Harrer M, Reckendorf CMZ, Schatz T, Sinske D, Lerche H, Maljevic S, Knöll B.

Mol Brain. 2017 Jul 17;10(1):30. doi: 10.1186/s13041-017-0310-2.

10.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
11.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S.

Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4.

12.

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Maljevic S, Vejzovic S, Bernhard MK, Bertsche A, Weise S, Döcker M, Lerche H, Lemke JR, Merkenschlager A, Syrbe S.

Mol Syndromol. 2016 Sep;7(4):189-196. Epub 2016 Jul 7.

13.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J.

Neurology. 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12.

14.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.

PMID:
27521439
15.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS.

J Neurol. 2016 Feb;263(2):334-343. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8.

PMID:
26645390
16.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

17.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

18.

Potassium channel genes and benign familial neonatal epilepsy.

Maljevic S, Lerche H.

Prog Brain Res. 2014;213:17-53. doi: 10.1016/B978-0-444-63326-2.00002-8. Review.

PMID:
25194482
19.

Zebrafish bioassay-guided microfractionation identifies anticonvulsant steroid glycosides from the Philippine medicinal plant Solanum torvum.

Challal S, Buenafe OE, Queiroz EF, Maljevic S, Marcourt L, Bock M, Kloeti W, Dayrit FM, Harvey AL, Lerche H, Esguerra CV, de Witte PA, Wolfender JL, Crawford AD.

ACS Chem Neurosci. 2014 Oct 15;5(10):993-1004. doi: 10.1021/cn5001342. Epub 2014 Sep 8.

PMID:
25127088
20.

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S.

Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.

PMID:
24318194
21.

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G.

Epilepsia. 2013 Sep;54(9):e117-21. doi: 10.1111/epi.12241. Epub 2013 Jun 12.

22.

A conserved threonine in the S1-S2 loop of KV7.2 and K V7.3 channels regulates voltage-dependent activation.

Füll Y, Seebohm G, Lerche H, Maljevic S.

Pflugers Arch. 2013 Jun;465(6):797-804. doi: 10.1007/s00424-012-1184-x. Epub 2012 Dec 28.

PMID:
23271449
23.

Potassium channels: a review of broadening therapeutic possibilities for neurological diseases.

Maljevic S, Lerche H.

J Neurol. 2013 Sep;260(9):2201-11. doi: 10.1007/s00415-012-6727-8. Epub 2012 Nov 11. Review.

PMID:
23142946
24.

Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Cağlayan H, Steinlein OK, Lerche H.

Hum Mutat. 2011 Oct;32(10):E2283-93. doi: 10.1002/humu.21554.

PMID:
21913284
25.

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.

Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H.

Neurology. 2011 Sep 6;77(10):959-64. doi: 10.1212/WNL.0b013e31822e0479. Epub 2011 Aug 10.

PMID:
21832227
26.

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE.

Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e.

PMID:
20956790
27.

KV7 channelopathies.

Maljevic S, Wuttke TV, Seebohm G, Lerche H.

Pflugers Arch. 2010 Jul;460(2):277-88. doi: 10.1007/s00424-010-0831-3. Epub 2010 Apr 18. Review.

PMID:
20401729
28.

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H.

Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5.

PMID:
20371507
29.

Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H.

Nat Genet. 2009 Sep;41(9):1043. doi: 10.1038/ng0909-1043. No abstract available.

PMID:
19710717
30.

CLCN2 variants in idiopathic generalized epilepsy.

Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H.

Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954. No abstract available.

PMID:
19710712
31.

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C.

Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876.

PMID:
19191339
32.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W.

Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.

33.

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H.

J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438.

34.

Nervous system KV7 disorders: breakdown of a subthreshold brake.

Maljevic S, Wuttke TV, Lerche H.

J Physiol. 2008 Apr 1;586(7):1791-801. doi: 10.1113/jphysiol.2008.150656. Epub 2008 Jan 31. Review.

35.

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

Hunter J, Maljevic S, Shankar A, Siegel A, Weissman B, Holt P, Olson L, Lerche H, Escayg A.

Neurobiol Dis. 2006 Oct;24(1):194-201. Epub 2006 Aug 17.

PMID:
16916607
36.

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A.

Ann Neurol. 2006 Jun;59(6):983-7.

PMID:
16718694
37.

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J.

Eur J Neurosci. 2005 Jul;22(1):10-20.

PMID:
16029191
38.

The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate.

Wuttke TV, Seebohm G, Bail S, Maljevic S, Lerche H.

Mol Pharmacol. 2005 Apr;67(4):1009-17. Epub 2005 Jan 20.

39.

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels.

Maljevic S, Lerche C, Seebohm G, Alekov AK, Busch AE, Lerche H.

J Physiol. 2003 Apr 15;548(Pt 2):353-60. Epub 2003 Mar 14.

40.

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A.

Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. Retraction in: Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C,.

PMID:
12612585

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