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83 Alvarez-Baron E, Michel K, Mittelstaedt T, Opitz T, Schmitz F, Beck H, Dietrich D, Becker AJ, Schoch S. RIM3? and RIM4? are key regulators of neuronal arborization. J Neurosci. 2013 Jan 9;33(2):824-39. doi: 10.1523/JNEUROSCI.2229-12.2013.PMID: 23303958.
82 Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, 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 Jan 9. [Epub ahead of print] PMID: 23299620.
81 Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11.
80 Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 Apr 7. [Epub ahead of print].
79 Fehr C, Sommerlad D, Sander T, Anghelescu I, Dahmen N, Szegedi A, Mueller C, Zill P, Soyka M, Preuss UW. Association of VMAT2 gene polymorphisms with alcohol dependence. J Neural Transm. 2013 Mar 17. [Epub ahead of print].
78 Hagemann A, May TW, Nieder E, Witte-Bölt K, Pohlmann-Eden B, Elger CE, Tergau F, Schulze-Bonhage A, Straub HB, Arnold S, Brandt C. Quality of life, anxiety and depression in adult patients after add-on of levetiracetam and conversion to levetiracetam monotherapy. Epilepsy Res. 2013 Mar;104(1-2):140-50. doi: 10.1016/j.eplepsyres.2012.08.005. Epub 2012 Sep 6. PMID:22959715.
77 Hämmerer D, Biele G, Müller V, Thiele H, Nürnberg P, Heekeren HR, Li SC. Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span. Front Psychol. 2013;4:89. doi: 10.3389/fpsyg.2013.00089. Epub 2013 Mar 4.
76 Helmstaedter C, Mihov Y, Toliat MR, Thiele H, Nuernberg P, Schoch S, Surges R, Elger CE, Kunz WS, Hurlemann R. Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam. Epilepsia. 2013 Jan;54(1):36-44. doi: 10.1111/j.1528-1167.2012.03603.x. Epub 2012 Aug 6.
75 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;54:265-71.
74 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. Epilepsia. 2013;54:256-64.
73 Pernhorst K, Herms S, Hoffmann P, Cichon S, Schulz H, Sander T, Schoch S, Becker AJ, Grote A. TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue. Seizure. 2013 May 22. doi:pii: S1059-1311(13)00144-1. 10.1016/j.seizure.2013.04.023. [Epub ahead of print].
72 Pernhorst K, van Loo KM, von Lehe M, Priebe L, Cichon S, Herms S, Hoffmann P, Helmstaedter C, Sander T, Schoch S, Becker AJ. Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue. Brain Res. 2013 Mar 7;1499:136-44. doi: 10.1016/j.brainres.2012.12.045. Epub 2013 Jan 16.PMID: 23333373.
71 Stölting G, Teodorescu G, Begemann B, Schubert J, Nabbout R, Toliat MR, Sander T, Nürnberg P, Lerche H, Fahlke C. Regulation of ClC-2 gating by intracellular ATP. Pflugers Arch. 2013 May 1. [Epub ahead of print].
2012
70 Aronica E, Becker AJ, Spreafico R. Malformations of cortical development. Brain Pathology, 22(3):380-401, 2012.
69 Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.
68 Borck G, Shin BS, Stiller B, Mimouni-Bloch A, Thiele H, Kim JR, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz CE, Gothelf D, Colleaux L, Dever TE, Kubisch C, Basel-Vanagaite L. eIF2? mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell. 2012 Nov 30;48(4):641-6. doi: 10.1016/j.molcel.2012.09.005. Epub 2012 Oct 11.
67 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 Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373.
66 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 Feb;53(2):308-18.
65 Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt GM, Pozo-Rosich P, Winsvold B, Nyholt DR, van Oosterhout WP, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter MA, Kaunisto MA, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden AG, Hofman A, Rivadeneira F, Heinze A, Tronvik E, van Duijn CM, Kaprio J, Cormand B, Wessman M, Frants RR, Meitinger T, Müller-Myhsok B, Zwart JA, Färkkilä M, Macaya A, Ferrari MD, Kubisch C, Palotie A, Dichgans M, van den Maagdenberg AM; International Headache Genetics Consortium. Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet. 2012; 44(7):777-82.
64 Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19.
63 Marcelin B, Liu Z, Chen Y, Lewis AS, Becker A, McClelland S, Chetkovich DM, Migliore M, Baram TZ, Esclapez M, Bernard C. Dorsal-ventral differences in intrinsic properties in developing CA1 pyramidal cells. J Neurosci, 32(11):3736-3747, 2012.
62 Marcelin B, Lugo JN, Brewster AL, Liu Z, Lewis AS, McClelland S, Chetkovich DM, Baram TZ, Anderson AE, Becker A, Esclapez M, Bernard C. Differential dorso-ventral distributions of Kv4.2 and HCN proteins confer distinct integrative properties to hippocampal CA1 pyramidal cell distal dendrites. J Biol Chem, 287(21):17656-17661, 2012.
61 Pitsch J, Opitz T, Borm V, Woitecki A, Staniek M, Beck H, Becker AJ, Schoch S. The presynaptic active zone protein RIM1? controls epileptogenesis following status epilepticus. J Neurosci. 2012 Sep 5;32(36):12384-95. doi: 10.1523/JNEUROSCI.0223-12.2012. PMID: 22956829.
60 Pitsch J, Opitz T, Borm V, Woitecki A, Staniek M, Beck H, Becker AJ, Schoch S. The presynaptic active zone protein RIM1? controls epileptogenesis following status epilepticus. J Neurosci. 2012 Sep 5;32(36):12384-95. doi: 10.1523/JNEUROSCI.0223-12.2012.
59 Quednow BB, Brinkmeyer J, Mobascher A, Nothnagel M, Musso F, Gründer G, Savary N, Petrovsky N, Frommann I, Lennertz L, Spreckelmeyer KN, Wienker TF, Dahmen N, Thuerauf N, Clepce M, Kiefer F, Majic T, Mössner R, Maier W, Gallinat J, Diaz-Lacava A, Toliat MR, Thiele H, Nürnberg P, Wagner M, Winterer G. Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating. Proc Natl Acad Sci U S A. 2012 Apr 17;109(16):6271-6. doi: 10.1073/pnas.1118051109. Epub 2012 Mar 26.
58 Raabe A, Schmitz AK, Pernhorst K, Grote A, von der Brelie C, Urbach H, Friedman A, Becker AJ, Elger CE, Niehusmann P. Cliniconeuropathologic correlations show astroglial albumin storage as a common factor in epileptogenic vascular lesions. Epilepsia. 2012 Mar;53(3):539-48. doi: 10.1111/j.1528-1167.2012.03405.x. PMID: 22372630.
57 Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
56 Schubert J, 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 A, 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.
55 Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology. 2012 Feb 21;78(8):557-62. Epub 2012 Jan 25. PMID: 22282645 [PubMed - indexed for MEDLINE].
54 van Loo KM, Schaub C, Pernhorst K, Yaari Y, Beck H, Schoch S, Becker AJ. Transcriptional regulation of the T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and RE1-silencing transcription factor (REST). J Biol Chem. 2012 Mar 19. [Epub ahead of print]. PMID: 22431737.
2011
53 Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ. Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci. 2011 Jan;14(1):77-84. Epub 2010 Dec 5. PMID: 21131953 [PubMed - indexed for MEDLINE]
52 Chasman DI, Schürks M, Anttila V, de Vries B, Schminke U, Launer LJ, Terwindt GM, van den Maagdenberg A, Fendrich K, Völzke H, Ernst F, Griffiths LR, Buring JE, Kallela M, Freilinger T, Kubisch C, Ridker PM, Palotie A, Ferrari MD, Hoffmann W, Zee RYL, Kurth T. Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nature Genet 2011;43:695-698
51 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 Feb;53(2):308-18. Epub 2012 Jan 13.
50 Erdmann E, Rupprecht V, Matthews E, Kukley M, Schoch S, Dietrich D. Depression of Release by mGluR8 Alters Ca2+ Dependence of Release Machinery. Cereb Cortex. 2011 Sep 7. [Epub ahead of print] PMID: 21903594
49 Giegling I, Drago A, Dol?an V, Plesni?ar BK, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, Stassen HH, Rujescu D, Serretti A. Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol. Pharmacogenet Genomics 2011 Apr;21(4):206-16.
48 Giegling I, Drago A, Schäfer M, Hartmann AM, Sander T, Toliat MR, Möller HJ, De Ronchi D, Stassen HH, Rujescu D, Serretti A. Lack of association between 71 variations located in candidate genes and response to acute haloperidol treatment. Psychopharmacology (Berl). 2011 Apr;214(3):719-28. Epub 2010 Nov 16.
47 Hoppe C, Elger CE. Depression in epilepsy: a critical review from a clinical perspective. Nat Rev Neurol. 2011 Jul 12;7(8):462-72. doi: 10.1038/nrneurol.2011.104. Review. PMID: 21750525
46 Jung S, Warner LN, Pitsch J, Becker AJ, Poolos NP. Rapid loss of dendritic HCN channel expression in hippocampal pyramidal neurons following status epilepticus. J Neurosci. 2011 Oct 5;31(40):14291-14295. PMID: 21976514 PMCID: PMC3208968
45 Krueppel R, Remy S, Beck H. Dendritic integration in hippocampal dentate granule cells. Neuron. 2011 Aug 11;71(3):512-28. PMID: 21835347
44 Lerche H, Vezzani A, Beck H, Blümcke I, Weber Y, Elger C. Neue Entwicklungen der Epileptogenese und therapeutische Perspektiven. "Nervenarzt 2011;82:978-85."
43 Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Ca?layan H, Steinlein OK, Lerche H. Temperature and pharmacological rescue of a folding-defective, dominant-negative KV7.2 mutation associated with neonatal seizures. "Hum Mutat. 2011;32:E2283-93."
42 Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia. 2011 Dec;52(12):e194-8. Epub 2011 Nov 2.
41 Pernhorst K, Raabe A, Niehusmann P, van Loo KM, Grote A, Hoffmann P, Cichon S, Sander T, Schoch S, Becker AJ. Promoter variants determine y-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi. J Neuropathol Exp Neurol. 2011 Dec;70(12):1080-1088. PMID: 22082659
40 Remy S, Beck H, Yaari Y. Plasticity of voltage-gated ion channels in pyramidal cell dendrites. Curr Opin Neurobiol. 2010 Aug;20(4):503-9. Epub 2010 Aug 4.
39 Schönberger A, Gembe E, Grote A, Witt JA, Elger CE, Bien CG, Urbach H, Becker AJ, Niehusmann P. Genetic analysis of tuberous-sclerosis genes 1 and 2 in nonlesional focal epilepsy.Epilepsy Behav. 2011 Jul;21(3):233-7. Epub 2011 May 8. PMID: 21555252
38 Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Wuttke TV, Schuele-Freyer R, Maljevic S, Liebrich J, Gasser T, Ludolph AC, van Paesschen W, Schoels L, De Jonghe P, Auburger G, Lerche H. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. "Neurology 2011;77:959-64."
37 Zürner M, Mittelstaedt T, tom Dieck S, Becker A, Schoch S. Analyses of the spatiotemporal expression and subcellular localization of liprin-? proteins.J Comp Neurol. 2011 Oct 15;519(15):3019-39. doi: 10.1002/cne.22664. PMID: 21618221
2010
36 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 variant on 8q22.1 regulating the expression of a nearby brain-expressed gene. Nature Genet 2010; 42(10):869-73
35 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.
34 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, Kasteleijn-Nolst Trenité D, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010;133:23-32
33 Gallinat J, Schubert F, Brühl R, Hellweg R, Klär AA, Kehrer C, Wirth C, Sander T, Lang UE. 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.
32 Grote A, Kovacs A, Clusmann H, Becker AJ, Niehusmann P. Incidental pituicytoma after accidental head trauma - case report and review of literature. Clin Neuropathol. 2010, 29(3):127-133
31 Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus and pain. Neurology 2010;75:1454-8.
30 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 inherited neonatal-infantile epilepsy. Brain. 2010; 133:1403-1414
29 Maljevic S, Wuttke TV, Seebohm G, Lerche H. KV7 channelopathies. Pflugers Arch. 2010 Jul;460(2):277-88. Epub 2010 Apr 18.
28 Mittelstaedt T, Alvaréz-Baron E, Schoch. RIM proteins and their role in synapse function. Biol Chem. 2010 Jun;391(6):599-606. PMID:20370319
27 Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, 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 Dec;51(12):2453-6. doi: 10.1111/j.1528-1167.2010.02712.x. Epub 2010 Sep 24.
26 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.
25 Niehusmann P, Bien CG, Drexler JF, Grote A, Schoch S, Becker AJ. Presence of human herpes virus-6 DNA in temporal lobe epilepsy brain tissue of patients with history of encephalitis but not other pathologies. Epilepsia. 2010; 51(12):2478-2483
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23 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.
22 Uebachs, M., Opitz, T., Royeck, M., Dickhof, G., Horstmann, M.-T., Isom, L., Beck, H. Efficacy loss of the anticonvulsant carbamazepine in mice lacking sodium channel accessory subunits via paradoxical effects on persistent sodium currents. J. Neurosci., 30: 8489-501
21 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 Sep;12(3):292-9. Epub 2010 Jun 24
20 Weber YG, Lerche H. Genetische Befunde bei Epilepsien und ihre Konsequenzen für die Behandlung. Nervenheilkunde 2010
19 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 human geneticepilepsy with febrile seizures plus. J Clin Invest 2010 Aug 2;120(8):2661-71. doi: 10.1172/JCI42219. Epub 2010 Jul 12.
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18 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.
17 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
16 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.
15 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.
14 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.
13 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
12 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.
11 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.
10 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
9 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
8 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
7 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
6 Weber YG, Lerche H. Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep 2009;9:206-11
5 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
4 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
3 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
2 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
1 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.
