2010

1    Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freil- inger T, Müller-Myhsok B, Artto V , Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko Y, Breteler MMB, Uitterlinden AG, Hofman A, van Duijn C, Tikka-Kleemola P, Vepsäläinen S, Lu- cae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Fer- rari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AMJM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie, A. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet. 2010 Oct;42(10):869-873. Epub 2010 Aug 29.
2    de Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Trenité DG, Stephani U, Koeleman BP. Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis. Epilepsy Res. 2010 May;89(2-3):286-94. Epub 2010 Feb 12.
3    De Kovel CGF, 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, Kasteleijn-Nolst Trenité D, Swinkels MEM, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann H-E, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BPC, Lindhout D, Eichler EE, Sander T. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalised epilepsies. Brain. 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20.
4    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. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain. 2010 May;133(Pt 5):1403-14. Epub 2010 Apr 5.
5    Mittelstaedt T, Alvaréz-Baron E, Schoch S. RIM proteins and their role in synapse function. Biol Chem. 2010 Apr 6. [Epub ahead of print] PMID: 20370319
6    Muhle H, von Spiczak S, Gaus V, Kara S, Helbig I, Hampe J, Franke A, Weber Y, 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 May;89(2-3):319-26. Epub 2010 Mar 24.
7    Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE. Genetic testing in the epilepsies - Report of the ILAE Genetics Commission. Epilepsia 2010, doi: 10.1111/j.1528-1167.2009.02429.x
8    Steffens M, Becker T, Sander T, Fimmers R, Herold C, Holler DA, Leu C, Herms S, Cichon S, Bohn B, Gerstner T, Griebel M, Markus M. Nöthen MM, Wienker TF, Baur MP. Feasible and successful: Genome-wide Interaction Analysis (GWIA) involving all 1.9 x 10E11 pair-wise interaction tests. Hum Hered. 2010 Mar 31;69(4):268-284.
9    Uebachs, M., Opitz, T., Royeck, M., Dickhof, G., Horstmann, M.-T., Isom, L., Beck, H. (2010) Efficacy loss of the anticonvulsant carbamazepine in mice lacking sodium channel accessory subunits via paradoxical effects on persistent sodium currents. J. Neurosci., 2010, 30: 8489-501 .
10    von Spiczak S, Muhle H, Helbig I, de Kovel CG, Hampe J, Gaus V, Koeleman BP, Lindhout D, Schreiber S, Sander T, Stephani U. Association Study of TRPC4 as a Candidate Gene for Generalized Epilepsy with Photosensitivity. Neuromolecular Med. 2010 Jun 24. [Epub ahead of print]
11    Weber YG, Lerche H. Genetische Befunde bei Epilepsien und ihre Konsequenzen für die Behandlung. Nervenheilkunde 2010
12    Wimmer VC, Reid CA, Mitchell S, Richards KL, Scaf BB, Leaw BT, Hill EL, Royeck M, Horstmann MT, Cromer BA, Davies PJ, Xu R, Lerche H, Berkovic SF, Beck H, Petrou S. Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. J Clin Invest. 2010 Aug 2;120(8):2661-71. doi: 10.1172/JCI42219. Epub 2010 Jul 12.

2009    

13    Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis ML, Guerrini R, Kjeldsen MJ, Nabbout R, Nashef L, Sander T, Sirén A, Wirrell E, McKeigue P, Robinson R, Gardiner RM, Everett KV. Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res. 2009 Dec;87(2-3):247-55. Epub 2009 Oct 17.
14    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 Oct 1;18(19):3626-31. Epub 2009 Jul 10. PMID: 19592580
15    El Sharawy A, Hundrieser B, Brosch M, Wittig M, Huse K, Platzer M, Becker A, Simon M, Rosenstiel P, Schreiber S, Krawczak M, Hampe J. Systematic evaluation of the effect of common SNPs on pre-mRNA splicing. Hum Mutat. 2009 Apr;30(4):625-32.
16    Gallinat J, Schubert F, Brühl R, Hellweg R, Klär AA, Kehrer C, Wirth C, Sander T, Lang UE (2010) Met carriers of BDNF Val66Met genotype show increased N-acetylaspartate concentration in the anterior cingulate cortex. Neuroimage. 2010 Jan 1;49(1):767-71. Epub 2009 Aug 13.
17    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, Kein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher1 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 Feb;41(2):160-2. Epub 2009 Jan 11.
18    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. CLCN2 variants in idiopathic generalized epilepsy. Nat Genet. 2009 Sep;41(9):954-5. PMID: 19710712
19    Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M,Nellist M, Schoch S, Becker A. Hamartin variants frequent in focaldysplasias and cortical tubers reveal reduced tuberin binding and aberrantsubcellular distribution in vitro. J Neuropathol Exp Neurol,68(10):1136-1146, 2009.
20    Mittelstaedt T, Seifert G, Alvarez-Barón E, Steinhäuser C, Becker AJ, SchochS. Differential mRNA expression patterns of the synaptotagmin gene family inthe rodent brain. J Comp Neurol, 512(4):514-528, 2009.
21    Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke Ch, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C. Two novel CLCN2 mutations accelerating Cl- channel deactivation are associated with idiopathic generalized epilepsy. Hum Mut 2009;30:397-405
22    Suls A*, Mullen SA*, Weber YG*, K Verhaert K, Ceulemans B, R Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LRF, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 2009; 66:415-9, *contributed equally
23    Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Todt U, Göbel H, Kaprio J, Kubisch C, Färkkilä M, Palotie A, Wessman M, Kallela M. Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura. Cephalalgia. 2009 Nov;29(11):1224-31. PMID: 19558538
24    Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C. New genetic evidence for involvement of the dopamine system in migraine with aura. Hum Genet. 2009 Apr;125(3):265-79. Epub 2009 Jan 17. PMID: 19152006
25    Weber YG, Lerche H. Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep 2009;9:206-11
26    Zürner M, Schoch S. The mouse and human Liprin-alpha family of scaffolding proteins: genomic organization, expression profiling and regulation by alternative splicing. Genomics. 2009 Mar;93(3):243-53. Epub 2008 Dec 13.PMID: 19013515

2008    

27    Becker AJ, Pitsch J, Sochivko D, Opitz T, Staniek M, Chen CC, Campbell KP, Schoch S, Yaari Y, Beck H.Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy. J Neurosci.2008 Dec 3;28(49):13341-13353. doi:10.1523 PMID: 19052226
28    Fassunke J, Majores M, Tresch A, Niehusmann P, Grote A, Schoch S, Becker AJ. Array analysis of epilepsyassociatedgangliogliomas reveals expression patterns related to aberrant development of neuronal precursors. Brain. 2008 Nov;131(Pt 11):3034-3050. doi:10.1093 PMID: 18819986
29    Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, ..., Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A. A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet. 2008 Nov 1;17(21):3318-31. PMID: 18676988
30    Royeck, M., Remy, S., Reitze, M., Yaari, Y., and Beck, H. (2008) The role of axonal Nav1.6 in action potential initiation of CA1 neurons. J. Neurophysiol. 2008, 100: 2361-80.