Klinische Genetik paroxysmaler neurologischer Erkrankungen

Die wichtigsten fünf Publikationen

1.    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. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. Journal of Clinical Investigation 2008;118: 2157-68. IF17.1

2.    Schubert S, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Antonnen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS). Hum Mutat 2012;33:1439-43. IF6.9

3.    Suls S*, Jaehn JA*, Kecskés A*, Weber YG*, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PAM, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I,  the EuroEPINOMICS RES Consortium. De novo loss-of-function mutations in CHD2 cause a fever-Sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome. Am J Hum Genet 2013; 93: 967–975. *contributed equally. IF10.6

4.    Schubert S, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CGF, Thiele H, Konrad K, Kawalia A, Toliat M, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Grilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman B, EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PAM, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG*, Lerche H*. Mutations in STX1B encoding a presynaptic protein cause fever-associated epilepsy syndromes. Nat Genet 2014;46:1327-32. *contributed equally. IF35.5.

5.    Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron S, Dibbens L, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 2016 Mar;79:428-36. IF11.2

Weitere Publikationen

Vor 2006:

1.         Weber YG, Steinberger D, Deuschl G, Benecke R, Müller U. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive Dystonia: exon skipping and one base insertion. Neurogenetics 1997;1: 125-127. IF0,25

2.         Steinberger D, Weber YG, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Müller U. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with Dopa-responsive Dystonia. Annals of Neurology 1998; 43: 634-639. IF9.5

3.         Lerche H*, Weber YG*, Baier H, Jurkat-Rott K, Kraus de Camargo O, Ludolph AC, Bode H, Lehmann-Horn F. Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family. Neurology 2001; 57: 1191-8, *gleichberechtigte Autorenschaft, IF5.7

4.         Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, Steinbach P, Wolf M, Ludolph AC, Lehmann-Horn F, Lerche H, Weber YG. Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resoncance imaging study. Neuroscience Letters 2003; 348: 73-76. IF2.0

5.         Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa K, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Benign familial infantile convulsions (BFIC): linkage to chromosome 16p12.2-q12.2 in 14 families. Epilepsia 2004; 45: 601-609. IF3.5

2006

6.         Weber YG, Roesche J, Lerche H. Epileptic nystagmus Two case reports, clinical and pathophysiological review of the literature. Journal of Neurology 2006; 253: 767-71. IF3.0

7.         Weber YG, Geiger J, Kämpchen K, Lindenberg K, Landwehrmeyer B, Sommer C, Lerche H. Immunhistochemical analysis of KCNQ2 potassium channel, affected in benign familial neonatal convulsions (BFNC), in the developing mouse brain. Brain Research 2006, 1077: 1-6. IF2.3

8.         Geiger J*, Weber YG*, Kämpchen K, Lindenberg K, Landwehrmeyer G, Sommer C, Lerche H. Immunohistochemical analysis of KCNQ3 potassium channels in the developing mouse brain. Neuroscience letters 2006, 400: 101-4, *gleichberechtigte Autorenschaft, IF2.1

9.         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. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Annals of Neurology 2006; 59: 983-987. IF8.1

10.     Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud’Homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, Elger CE, Weber YG, Lerche H, Nürnberg P, Kron KL, Scheffer IE, Mulley JC, Berkovic SF, Sander T. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia 2006; 47: 1682-90. IF3.5

11.     Koenig SA, Buesing D, Longin E, Oehring R, Häussermann P, Kluger G, Lindmayer F, Hanusch R, Degen I, Kuhn H, Samii K, Jungck A, Brückner R, Seitz R, Boxtermann W, Weber YG, Knapp R, Richard HH, Weidner B, Kasper JM, Haensch CA, Fitzek S, Hartmann M, Borusiak P, Müller-Deile A, Degenhardt V, Korenke GC, Hoppen T, Specht U, Gerstner T. Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003. Epilepsia 2006; 47: 2027-31. IF3.5

2007

12.   Hempelmann A, Cobilanschi J, Heils A, Muhle H, Stephani U, Weber YG, Lerche H, Sander T. Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. Epilepsy Research 2007; 74: 28-32. IF2.1

2008

13.     Weber YG, M. Jacob, G. Weber, H. Lerche. A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. Epilepsia 2008;49: 1959-64. IF3.5

14.     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. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. Journal of Clinical Investigation 2008;118: 2157-68. IF17.1

15.     Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber YG, 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. GLUT1 mutations and metabolic changes in basal ganglia and frontal cortex in paroxysmal exercise-induced dyskinesia and epilepsy. Brain 2008;131:1831-44. IF7.6

2009

16.     Roebling R, Huch K, Kassubek J, Lerche H, Weber YG. Cervical spinal MRI in a patient with a vagus nerve stimulator (VNS). Epilepsy Res 2009;84: 273-5. IF2.5

17.     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. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 2009;30: 397-405. IF6.9

18.     Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 2009;18: 3626-31. IF7.4

19.     Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber YG, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009;41:160-2. IF26.4

20.     Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009;24: 1684-8. IF4.0

21.     Suls A*, Mullen SA*, Weber YG*, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009;66: 415-419. *contributed equally, IF9.1

2010

22.     Muhle H, von Spiczak S, Gaus V, Kara S, Helbig I, Hampe J, Franke A, Weber YG, Lerche H, Kleefuss-Lie AA, Elger CE, Schreiber S, Stephani U, Sander T. Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res 2010;89:319-26. IF4.1

23.     Weber YG, Roebling R, Kassubek J, Hoffmann S, Rosenbohm A, Wolf M, Steinbach P, Jurkat-Rott K, Walter H, Reske SN, Lehmann-Horn F, Mottaghy FM, Lerche H. Comparative analysis of brain structure, metabolism and cognition in myotonic dystrophy 1 and 2. Neurology 2010;74:1108-17. IF8.2

24.     de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, et al., Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010;133:23-32. IF9.8

25.     Muhle H, Steinich I, von Spiczak S, Franke A, Weber YG, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia 2010;51:2453-6. IF4.1

2011

26.     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. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011;77:959-64. IF8.2

2012

27.     EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuß-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia 2012;53:308-318. IF4.1

28.     Striano P*, Weber YG*, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R. LeGuern G, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Epicure Consortium, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C.  GLUT1-mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012;78:557-62. *contributed equally. IF8.2

29.     Schubert S, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Antonnen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS). Hum Mutat 2012;33:1439-43. IF6.9

30.     Lemke JR, Riesch E, Scheurenbrand T, Schubach T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Goeggel Simonetti B, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimha M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Targeted Next Generation Sequencing as a Diagnostic Tool in Epileptic Disorders. Epilepsia 2012;53:1387-98. IF4.1

31.     Rosenow F, Schade-Brittinger C, Burchardi N, Bauer S, Klein KM, Weber YG, Lerche H, Evers S, Kovac S, Hallmeyer-Elgner S, Winkler G, Springub J, Niedhammer M, Roth E, Eisensehr I, Berrouschot J, Arnold S, Schröder M, Beige A, Oertel WH, Strzelczyk A, Haag A, Reif PS, Hamer HM; for the LaLiMo Study Group. The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study. J Neurol Neurosurg Psychiatry 2012;83:1093-1098. IF4.8

32.     EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012;21:5359-72. IF8.1

33.     Körtvelyessy P, Lerche H, Weber YG. FIRES and NORSE are distinct entities. Epilepsia 2012;53:1276. IF4.0

34.     Clark CN, Weber YW, Lerche H, Warner TT. Paroxysmal exercise-induced dyskinesia of the hands. Mov Disord 2012;27:1579-80. IF4.5

2013

35.     Becker F, Schubert J, Striano P, Anttonen AK, Polvi A, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Liukkonen E, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG. PRRT2-related disorders: Further PKD and ICCA cases and review of the literature. J Neurol 2013;260:1234-44. IF3.6

36.     Suls S*, Jaehn JA*, Kecskés A*, Weber YG*, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PAM, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I, the EuroEPINOMICS RES Consortium. De novo loss-of-function mutations in CHD2 cause a fever-Sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome. Am J Hum Genet 2013; 93: 967–975. *contributed equally. IF10.6

37.     Møller RS*, Weber YG*, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 2013;54:256-64. IF3.9 *equally contributed.

38.     Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 2013;56:265-71. IF3.9

39.     Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, López RG, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013;459:1067-72. IF35.5

40.     Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG. Mutation in the mitochondrial tRNA^Ile gene causes progressive myoclonus epilepsy. Seizure 2013;22:483-6. IF2.0

41.     Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber YG, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013;136:3140-50. IF9.9

2014

42.     Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H; EuroEPINOMICS Consortium, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber YG, Zimprich F, Neubauer BA. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 2014;75:788-92. IF11.9

43.     Schubert S, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CGF, Thiele H, Konrad K, Kawalia A, Toliat M, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Grilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman B, EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PAM, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG*, Lerche H*. Mutations in STX1B encoding a presynaptic protein cause fever-associated epilepsy syndromes. Nat Genet 2014;46:1327-32. *contributed equally. IF29.6

44.     Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet 2014;46:640-5. IF29.6

45.     Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; The 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA; The 16p11 2 European Consortium. 16p11.2 600 kb. Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet 2014;23:6069-80 IF6.7

46.     Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG. Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol 2014;261:1881-6. IF3.8

47.     EuroEPINOMICS-RES Consortium, Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet 2014;95:360-70. IF11.0

48.     International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol 2014;13:893-903.IF21.8

49.     Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber YG, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology 2014;24:2218-27. IF8.3

2015

50.     Boon P, Vonck K, van Rijckevorsel K, Tahry RE, Elger CE, Mullatti N, Schulze-Bonhage A, Wagner L, Diehl B, Hamer H, Reuber M, Kostov H, Legros B, Noachtar S, Weber YG, Coenen VA, Rooijakkers H, Schijns OE, Selway R, Van Roost D, Eggleston KS, Van Grunderbeek W, Jayewardene AK, McGuire RM. A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation. Seizure 2015;32:52-61. IF2.0

51.     Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of the EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 2015;56:e203-8. IF3.9

52.     Schönenberg M, Jusyte A, Höhnle N, Mayer SV, Weber YG, Hautzinger M, Schell C. Theory of mind abilities in patients with psychogenic nonepileptic seizures. Epilepsy Behav 2015;53:20-4. IF1.8

53.     Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber YG, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain 2015;138:3238-50. IF9.9

54.     Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber YG, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res 2015;115:95-9. IF2.2

55.     Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia 2015;56:e129-33. IF3.9

56.     von Stülpnagel C, Funke C, Haberl C, Hörtnagel K, Jüngling J, Weber YG, Staudt M, Kluger G. SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG. Neuropediatrics 2015;46:287-91. IF1.2

57.     Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn-Merker E, Hofmann-Peters A, Sperner J, Cross H, Hallmann K, Elger CE, Kunz WS, Madeleyen R, Lerche H, Weber YG. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? Epilepsy Res 2015;114:47-51. IF2.2

58.     Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium, Sander T. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalized epilepsies. PLoS Genet 2015;11:e1005226. IF8.5

59.     Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain 2015;138:1198-207. IF9.9

60.     Syrbe S, Hedrich UB, 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, Steinlein M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, 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. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 2015;47:393-9. IF35.5.

61.     Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber YG, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel Ü, Antonarakis SE. Galanin pathogenic mutations in temporal lobe epilepsy. Hum Mol Genet 2015;24:3082-91. IF7.7

62.     Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015;84:480-9. IF8.2

63.     Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet 2015;24:2218-27. IF7.7

2016

64.     Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron S, Dibbens L, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 2016 Mar;79:428-36. IF11.2

65.     Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One 2016;11:e0150426. IF8.5

66.     Bauer S, Baier H, Baumgartner C, Bohlmann K, Fauser S, Graf W, Hillenbrand B, Hirsch M, Last C, Lerche H, Mayer T, Schulze-Bonhage A, Steinhoff BJ, Weber YG, Hartlep A, Rosenow F, Hamer HM. Transcutaneous Vagus Nerve Stimulation (tVNS) for Treatment of Drug-Resistant Epilepsy: A Randomized, Double-Blind Clinical Trial (cMPsE02). Brain Stimul 2016;9:356-63. IF4.5

67.     Lang N, Lange M, Schmitt FC, Bös M, Weber YG, Evers S, Burghaus L, Kellinghaus C, Schubert-Bast S, Bösel J, Lammers T, Sabolek M, van Baalen A, Dziewas R, Kraft A, Ruf S, Stephani U. Intravenous lacosamide in clinical practice-Results from an independent registry. Seizure 2016;39:5-9. IF2.0

68.     Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 2016;139:2420-30. IF10.1

69.     Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber YG, 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. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology 2016;87:1140-51. IF8.2

70.     de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S, EuroEPINOMICS RES Consortium, Koeleman BP. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Mol Genet Genomic Med 2016;4:568-80. IF0.0

2017

71.     Kudin AP, Baron G, Zsurka G, Hampel KG, Elger CE, Grote A, Weber YG, Lerche H, Thiele H, Nürnberg P, Schulz H, Ruppert AK, Sander T, Cheng Q, Arnér ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U, Kunz WS. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic Biol Med 2017:270-277. IF5.3

72.     EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet 2017;100:179. IF11.2

Übersicht- und Buchartikel

1.         Weber YG, Baier H, Ludolph AC. Epilepsie bei neurodegenerativen Erkrankungen. Nervenheilkunde 2002; 21: 453-6. IF0.2

2.         Lerche H, Weber YG, Heils A. Genetik und Pathophysiologie idiopathischer Epilepsien. Nervenheilkunde 2004; 4: 188. IF0.5

3.         Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F. Ion Channel Defects in Idiopathic Epilepsies. Current Pharmaceutical Design 2005; 11: 2737-2752. IF4.8

4.         Lerche H, Maljevic S, Weber YG. Genetics and pathophysiological mechanisms in idiopathic epilepsies. In: Plecko B (Ed). Symposia Proceedings: Metabolic and genetic infantile epilepsies, Int. Symposium ‘Focus on Neuropediatrics’ 2005 (Fulda), SPS Publications, Heilbronn, 2006; 58-89. IF0.25

5.         Weber YG, Lerche H. Genetic mechanism in epilepsy. Developmental Medicine and Child Neurology 2008;50: 648-54. IF2.6

6.         Weber YG, Lerche H. Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep 2009; 9: 206-11. IF0.25

7.         Weber YG, Serratosa JM, Lehesjoki A-E. Unverricht-Lundborg Disease. In Lang F (ed): Encyclopedia of Molecular Mechanisms of Disease, pp. 2138-2139, Springer Berlin Heidelberg, 2009. IF0.25

8.         Jurkat-Rott K, Lerche H, Weber YG, Lehmann-Horn F. Hereditary channelopathies in neurology. Adv Exp Med Biol 2010;686:305-34. IF2.0

9.         Weber YG, Schwenkhagen A, Lerche H. Verhütung bei Epilepsie. Einfälle 2010;115. IF0.25

10.     Weber YG, Lerche H. Genetik erblich bedingte Epilepsien. Epikurier 2010;2. IF0.25

11.     Lerche H, Weber YG. Praktische Epilepsietherapie. Neurotransmitter 2010;3. IF0.25

12.     Weber YG, Lerche H. Genetische Befunde bei Epilepsie und ihre Konsequenzen. Nervenheilkunde 2010;5:275-281. IF0.4

13.     Becker F, Weber YG, Lerche H. Genetik fokaler Epilepsien. Zeitschrift für Epileptologie 2010;27:10-18. IF0.25

14.     Jurkat-Rott K, Lerche H, Weber YG, Lehmann-Horn F. Hereditary channelopathies in neurology. Adv Exp Med Biol 2010;686:305-34. IF1.4

15.     Weber YG, Lerche H. Die klinische Variabilität der Glucose Transporter Typ 1 (Glut1) Syndrome. Zeitschrift für Epileptologie 2010;27. IF0.25

16.     Weber YG, Sander T, Lerche H. Idiopathische generalisierte Epilepsien. Zeitschrift für Epileptologie 2011;24:100-107. IF0.25

17.     Weber YG, Lerche H. Indikationen zur genetischen Diagnostik bei Epilepsie. Zeitschrift für Epileptologie 2011;24:128-132. IF0.25

18.     Lerche H, Vezzani A, Beck H, Blümcke I, Weber YG, Elger C. New developments in epileptogenesis and therapeutic perspectives. Nervenarzt 2011;82:978-85. IF0.8

19.     Lerche H und Weber YG. Anfallsartige Erkrankungen. S.75-102. In: Sitzer M und Steinmetz H. Lehrbuch Neurologie. Urban und Fischer. 2011. IF0.25

20.     Weber YG, Lerche H. Genetics of idiopathic epilepsies. Nervenarzt 2013;84:151-6. IF0.8

21.     Weber YG. Benigne familiäre neonatale/infantile Anfälle. Z Epileptol 2013;26:241–244. IF0.25

22.     Weber YG, Nies AT, Schwab M, Lerche H. Genetic Biomarkers in Epilepsy. Neurotherapeutics 2014;11:324-33. IF5.9

23.     Wolking S, Weber YG. Genetics of epileptic encephalopathies. Aktuelle Neurologie 2015;42:437-481. IF0.3

24.     Kegele J, Weber YG. Relevante genetische Befunde für die Praxis. Z Epileptol 2016; 29:87–92. IF0

25.     Wolking S, von Spiczak S, Weber YG. Genetik epileptischer Enzephalopathien. Z Epileptologie 2016; 29:70–76. IF0