Forschung

Bayat A, Aledo-Serrano A, Gil-Nagel A, Korff CM, Thomas A, Boßelmann C, Weber Y, Gardella E, Lund AM, de Sain-van der Velden MGM, Møller RS. 2022. Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study. Dev Med Child Neurol. doi:10.1111/dmcn.15142

Bungenberg J, Humkamp K, Hohenfeld C, Rust MI, Ermis U, Dreher M, Hartmann NUK, Marx G, Binkofski F, Finke C, Schulz JB, Costa AS, Reetz K. 2022. Long COVID-19: Objectifying most self-reported neurological symptoms. Ann Clin Transl Neurol 9:141–154. doi:10.1002/acn3.51496

Fischer FP, Kasture AS, Hummel T, Sucic S. 2022. Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss : Links to Epilepsy and Developmental Spectrum Disorders 9:1–12. doi:10.3389/fmolb.2022.834498

Tsortouktzidis D, Tröscher AR, Schulz H, Opitz T, Schoch S, Becker AJ, van Loo KMJ. 2022. A Versatile Clustered Regularly Interspaced Palindromic Repeats Toolbox to Study Neurological CaV3.2 Channelopathies by Promoter-Mediated Transcription Control. Front Mol Neurosci 14. doi:10.3389/fnmol.2021.667143

Vorderwülbecke BJ, Wandschneider B, Weber Y, Holtkamp M. 2022. Genetic generalized epilepsies in adults — challenging assumptions and dogmas. Nat Rev Neurol. doi:10.1038/s41582-021-00583-9

Boßelmann CM, Antonio-Arce VS, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y, Wolking S. 2022. Genetic testing before epilepsy surgery – An exploratory survey and case collection from German epilepsy centers. Seizure 95:4–10. doi:10.1016/j.seizure.2021.12.004

Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H, Epi25 Collaborative. 2021. Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine 72. doi:10.1016/j.ebiom.2021.103588

Mirza N, Stevelink R, Taweel B, Koeleman BPC, Marson AG, Abou-Khalil B, Auce P, Avbersek A, Bahlo M, Balding DJ, Bast T, Baum L, Becker AJ, Berghuis FBB, Berkovic SF, Boysen KE, Bradfield JP, Brody LC, Buono RJ, Campbell E, Cascino GD, Catarino CB, Cavalleri GL, Cherny SS, Chinthapalli K, Coffey AJ, Compston A, Coppola A, Cossette P, Craig JJ, de Haan G-J, De Jonghe P, de Kovel CGF, Delanty N, Depondt C, Devinsky O, Dlugos DJ, Doherty CP, Elger CE, Eriksson JG, Ferraro TN, Feucht M, Francis B, Franke A, French JA, Freytag S, Gaus V, Geller EB, Gieger C, Glauser T, Glynn S, Goldstein DB, Gui H, Guo Y, Haas KF, Hakonarson H, Hallmann K, Haut S, Heinzen EL, Helbig I, Hengsbach C, Hjalgrim H, Iacomino M, Ingason A, Jamnadas-Khoda J, Johnson MR, Kälviäinen R, Kantanen A-M, Kasperavičiūte D, Trenite DK-N, Kirsch HE, Knowlton RC, Koeleman BPC, Krause R, Krenn M, Kunz WS, Kuzniecky R, Kwan P, Lal D, Lau Y-L, Lerche H, Leu C, Lieb W, Lindhout D, Lo WD, Lopes-Cendes I, Lowenstein DH, Malovini A, Marson AG, Mayer T, McCormack M, Mills JL, Mirza N, Moerzinger M, Møller RS, Molloy AM, Muhle H, Newton M, Ng P-W, Nöthen MM, Nürnberg P, O’Brien TJ, Oliver KL, Palotie A, Pangilinan F, Peter S, Petrovski S, Poduri A, Privitera M, Radtke R, Rau S, Reif PS, Reinthaler EM, Rosenow F, Sander JW, Sander T, Scattergood T, Schachter SC, Schankin CJ, Scheffer IE, Schmitz B, Schoch S, Sham PC, Shih JJ, Sills GJ, Sisodiya SM, Slattery L, Smith A, Smith DF, Smith MC, Smith PE, Sonsma ACM, Speed D, Sperling MR, Steinhoff BJ, Stephani U, Stevelink R, Strauch K, Striano P, Stroink H, Surges R, Tan KM, Thio LL, Thomas GN, Todaro M, Tozzi R, Vari MS, Vining EPG, Visscher F, Spiczak S von, Walley NM, Weber YG, Wei Z, Weisenberg J, Whelan CD, Widdess-Walsh P, Wolff M, Wolking S, Yang W, Zara F, Zimprich F. 2021. Using common genetic variants to find drugs for common epilepsies. Brain Commun 3. doi:10.1093/braincomms/fcab287

Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC, Epi25 Collaborative. 2021. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia 62:1518–1527. doi:10.1111/epi.16922

Wolking S. 2021. Epilepsiegenetik: Praktische Aspekte für heute und die Zukunft. NeuroTransmitter 32:38–43. doi:10.1007/s15016-021-9320-5

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. 2021. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet 108:2368–2384. doi:10.1016/j.ajhg.2021.11.003

Cases-Cunillera S, van Loo KMJ, Pitsch J, Quatraccioni A, Sivalingam S, Salomoni P, Borger V, Dietrich D, Schoch S, Becker AJ. 2021.  Heterogeneity and excitability of BRAF V600E -induced tumors is determined by Akt/mTOR-signaling state and Trp53 -loss . Neuro Oncol. doi:10.1093/neuonc/noab268

Balestrini S, Chiarello D, Gogou M, Silvennoinen K, Puvirajasinghe C, Jones WD, Reif P, Klein KM, Rosenow F, Weber YG, et al. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. J Neurol Neurosurg Psychiatry. 2021 Apr 26;jnnp-2020-325932. doi: 10.1136/jnnp-2020-325932.

S. Wolking, .et al. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Ann Clin Transl Neurol. 2021 Jul;8(7):1376-1387.doi: 10.1002/acn3.51374. Epub 2021 May 21.

S. Wolking, C. Campbell, C. Stapleton, M. McCormack, N. Delanty, C. Depondt, M. R. Johnson, B. P. C. Koeleman, R. Krause, W. S. Kunz, A. G. Marson, J. W. Sander, G. J. Sills, P. Striano, F. Zara, S. M. Sisodiya, G. L. Cavalleri and H. Lerche.Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications.Front Pharmacol.2021. 12. doi: 10.3389/fphar.2021.688386

L. M. Willems, H. Baier, C. G. Bien, F. Bosebeck, M. Dumpelmann, H. M. Hamer, C. Kellinghaus, S. Knake, M. Schreiber, A. M. Staack, R. Surges, F. Tergau, F. von Podewils, Y. Weber, T. Wehner, Y. Winter, J. Philipp Zollner, A. Strzelczyk and F. Rosenow.Satisfaction with and reliability of in-hospital video-EEG monitoring systems in epilepsy diagnosis - A German multicenter experience.Clin Neurophysiol.2021. doi: 10.1016/j.clinph.2021.04.020

B. Schumann-Werner, I. Dogan, S. Mirzazade, B. Mall, R. Overbeck, P. Honrath, J. B. Schulz, K. Reetz and C. J. Werner.Clinical predictors and neural correlates for compromised swallowing safety in Huntington disease.Eur J Neurol.2021. doi: 10.1111/ene.14953

Braatz V, Martins Custodio H, Leu C, Agro L, Wang B, Calafato S, Rayner G, Doyle MG, Hengsbach C, Bisulli F, Weber YG, Gambardella A, Delanty N, Cavalleri G, Foong J, Scheffer IE, Berkovic SF, Bramon E, Balestrini S, Sisodiya SM. Post-ictal psychosis in epilepsy: A clinico-genetic study. Ann Neurol. 2021 Jul 20. doi: 10.1002/ana.26174. Online ahead of print.

Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals  Epi25 Collaborative. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30.

Barth M, Bacioglu M, Schwarz N, Novotny R, Brandes J, Welzer M, Mazzitelli S, Häsler LM, Schweighauser M, Wuttke T V., Kronenberg-Versteeg D, Fog K, Ambjørn M, Alik A, Melki R, Kahle PJ, Shimshek DR, Koch H, Jucker M, Tanriöver G. 2021. Microglial inclusions and neurofilament light chain release follow neuronal α-synuclein lesions in long-term brain slice cultures. Mol Neurodegener 16:54. doi: 10.1186/s13024-021-00471-2

Schoch S, Quatraccioni A, Robens B K, Maresch R., van Loo K. M J, Cases-Cunillera S, Kelly T, Opitz T, Borger V, Dietrich D., Pitsch J, Beck H and Becker A J Ste20-like kinase is critical for inhibitory synapse maintenance and its deficiency confers a developmental dendritopathy.J Neurosci.2021. doi: 10.1523/JNEUROSCI.0352-21.2021

Tolve M, Ulusoy A, Patikas N, Islam KUS, Bodea GO, Öztürk E, Broske B, Mentani A, Wagener A, van Loo K, Britsch S, Liu P, Khaled WT, Metzakopian E, Baader SL, Di Monte DA, Blaess S. The transcription factor BCL11A defines distinct subsets of midbrain dopaminergic neurons.  Cell Rep. 2021 Sep 14;36(11):109697. doi:10.1016/j.celrep.2021.109697. PMID: 34525371

Layer N, Brandes J, Lührs PJ, Wuttke TV, Koch H

. The effect of lamotrigine and other antiepileptic drugs on respiratory rhythm generation in the pre-Bötzinger complex. Epilepsia 2021. doi.org/10.1111/EPI.17066

Layer N, Sonnenberg L, Pardo González E, Benda J, Hedrich UBS, Lerche H, Koch H, Wuttke T V. 2021. Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation. Front Cell Neurosci. 15.. doi: 10.3389/fncel.2021.754530

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah M-S, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. 2021. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. Am J Hum Genet. doi:10.1016/j.ajhg.2021.11.003

Döring, J. H., Saffari, A., Bast, T., Brockmann, K., Ehrhardt, L., Fazeli, W., Janzarik, W. G., Kluger, G., Muhle, H., Møller, R. S., Platzer, K., Santos, J. L., Bache, I., Bertsche, A., Bonfert, M., Borggräfe, I., Broser, P. J., Datta, A. N., Hammer, T. B., Hartmann, H., Hasse-Wittmer, A., Henneke, M., Kühne, H., Lemke, J. R., Maier, O., Matzker, E., Merkenschlager, A., Opp, J., Patzer, S., Rostasy, K., Stark, B., Strzelczyk, A., von Stülpnagel, C., Weber, Y., et al. (2020). The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood. Biomedicines. 8:1–14. 

Galer, P. D., Ganesan, S., Lewis-Smith, D., McKeown, S. E., Pendziwiat, M., Helbig, K. L., Ellis, C. A., Rademacher, A., Smith, L., Poduri, A., Seiffert, S., von Spiczak, S., Muhle, H., van Baalen, A., NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network, Thomas, R. H., Krause, R., Weber, Y., et. al. (2020). Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 107:683–697. 

Wolking, S., Schulz, H., Nies, A. T., Mccormack, M., Schaeffeler, E., Auce, P., Avbersek, A., Becker, F., Klein, K. M., Krenn, M., Møller, R. S., Nikanorova, M., Weckhuysen, S., Consortium EPg, Cavalleri, G. L., Delanty, N., Depondt, C., Johnson M. R., Koeleman, B. P. C., Kunz, W. S., Marson, A. G., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Zimprich, F., Weber, Y. G., et al. (2020). Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics. 21:325–335. 

Yuste, R., Hawrylycz, M., Aalling, N., Aguilar-Valles, A., Arendt, D., Arnedillo, R. A., Ascoli, G. A., Bielza, C., Bokharaie, V., Bergmann, T. B., Bystron, I., Capogna, M., Chang, Y., Clemens, A., de Kock, C. P. J., DeFelipe, J., Dos Santos, S. E., Dunville, K., Feldmeyer, D., Fiáth, R., Fishell, G. J., Foggetti, A., Gao, X., Ghaderi, P., Goriounova, N. A., Güntürkün, O., Hagihara, K., Hall, V. J., Helmstaedter, M., Herculano, S., Hilscher, M. M., Hirase, H., Hjerling-Leffler, J., Hodge, R., Huang, J., Huda, R., Khodosevich, K., Kiehn, O., Koch, H., et al. (2020). A community-based transcriptomics classification and nomenclature of neocortical cell types. Nat Neurosci. 1–13. 

Tang, S., Addis, L., Smith, A., Topp, S. D., Pendziwiat, M., Mei, D., Parker, A., Agrawal, S., Hughes, E., Lascelles, K., Williams, R. E., Fallon, P., Robinson, R., Cross H. J., Hedderly, T., Eltze, C., Kerr, T., Desurkar, A., Hussain, N., Kinali, M., Bagnasco, I., Vassallo, G., Whitehouse, W., Goyal, S., Absoud, M., Møller, R. S., Helbig, I., Weber, Y. G., et al. (2020). Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia 61:995–1007.

Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Møller, R. S., Krause, R., Nürnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., EuroEPINOMICS-RES Consortium; Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Koeleman, B. P. C., Helbig, K. L., Weber, Y. G., et al. (2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med. 12.

Moreau, C., Rébillard, R.-M., Wolking, S., et al. (2020). Polygenic risk scores of several subtypes of epilepsies in a founder population. Neurol. Genet. 6.

Scherer, M., Milosevic, L., Guggenberger, R., Maus, V., Naros, G., Grimm, F., Bucurenciu, I., Steinhoff, B. J., Weber, Y. G., et al. (2020). Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy. Neuroimage 116967.

Slavotinek, A., van Hagen, J. M., Kalsner, L., Pai, S., Davis-Keppen, L., Ohden, L., Weber, Y. G., et al. (2020). Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur. J. Med. Genet. 103850.

Wickham, J., Corna, A., Schwarz, N., Uysal, B., Layer, N., Honegger, J. B., Wuttke, T. V., Koch, H., et al. (2020). Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices. Front. Neurosci. 14.

Wolking, S., Moreau, C., Nies, A. T., Schaeffeler, E., McCormack, M., Auce, P., Avbersek, A., Becker, F., Krenn, M., Møller, R. S., Nikanorova, M., Weber, Y. G., et al. (2020). Testing association of rare genetic variants with resistance to three common antiseizure medications. Epilepsia 61, 657–666.

Zöllner, J. P., Wolking, S., Weber, Y., et al. (2020). Decision support systems, assistance systems and telemedicine in epileptology. Nervenarzt Nov 27;1-9.

Honrath, P.,et al. Investigating Neurocognitive Functioning in Youths With Externalizing Disorders From the Philadelphia Neurodevelopmental Cohort. J Adolesc Health.2020. 2020/12/16.

Pitsch, J*., van Loo, K. M. J*., et al. (2020). CD8+ T-lymphocyte driven limbic encephalitis results in temporal lobe epilepsy. Ann Neurol Dec 27. (*equal contribution) 

Tsortouktzidis, D., Schulz, H., Hamed, M., Vatter, H., Surges, R., Schoch, S., Sander, T., Becker, A. J., van Loo, K. M. J,. Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness. Epilepsia. 2020 Dec 15.

Rademacher, A., Schwarz, N^#.,  Seiffert, S., Pendziwiat, M., Rohr, A., van Baalen, A.,  Helbig, I.,  Weber^#, Y., et al. (2020). Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy. Neuropediatrics 51: 368-372.

Berghuis, B., Stapleton, C., Sonsma, A. C. M., Hulst, J., de Haan, G.-J., Lindhout, D., Demurtas, R., Krause, R., Depondt, C., Kunz, W. S., Zara, F., Striano, P., Craig, J., Auce, P., Marson, A. G., Stefansson, H., O'Brien, T. J., Johnson, M. R., Sills, G. J., Wolking, S., et al. (2019). A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. Epilepsia Open 4, 102–109.

Czolk, R., Schwarz, N., Koch, H., et al. (2019). Irradiation enhances the therapeutic effect of the oncolytic adenovirus XVir-N-31 in brain tumor initiating cells. Int. J. Mol. Med. 44, 1484–1494.

Epi25 Collaborative. (2019) Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals. Am J Hum Genet. 2019 Aug 1;105(2):267-282.

Heavin, S. B., McCormack, M., Wolking, S., et al. (2019). Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia Open 4, 563–571.

Hedrich, U. B. S., Koch, H., et al. (2019). Epileptogenesis and consequences for treatment. Nervenarzt 90, 773–780.

Helbig, I., Lopez-Hernandez, T., Shor, O., Galer, P., Ganesan, S., Pendziwiat, M., Rademacher, A., Ellis, C. A., Hümpfer, N., Schwarz, N., Seiffert, S., Peeden, J., Shen, J., Štěrbová, K., Hammer, T. B., Møller, R. S., Shinde, D. N., Tang, S., Smith, L., Poduri, A., Krause, R., Benninger, F., Helbig, K. L., Haucke, V., Weber, Y. G., et al. (2019). A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am. J. Hum. Genet. 104, 1060-1072.

Heyne, H. O., Artomov, M., Battke, F., Bianchini, C., Smith, D. R., Liebmann, N., Tadigotla, V., Stanley, C. M., Lal, D., Rehm, H., Lerche, H., Daly, M. J., Helbig, I., Biskup, S., Weber, Y. G., et al. (2019). Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet. Med. 21, 2496–2503.

Koch, H., Weber, Y. G. (2019). The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav. 91, 90–93.

Koch, H., et al. (2019). In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients. Sci. Rep. 1–8.

Kruszynski, S., Stanaitis, K., Brandes, J., Poets, C. F., Koch, H. (2019). Doxapram stimulates respiratory activity through distinct activation of neurons in the nucleus hypoglossus and the pre-Bötzinger complex. J. Neurophysiol. 121, 1102–1110.

Holger Lerche , Samuel F Berkovic , Daniel H Lowenstein , EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project (2019). Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N. Engl. J. Med. 380.

Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., et al.(2019). Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain 142, 376–390.

Niestroj, L. M., May, P., Artomov, M., Kobow, K., Coras, R., Pérez-Palma, E., Altmüller, J., Thiele, H., Nürnberg, P., Leu, C., Palotie, A., Daly, M. J., Klein, K. M., Beschorner, R., Weber, Y. G., et al. (2019). Assessment of genetic variant burden in epilepsy-associated brain lesions. Eur. J. Hum. Genet. 27, 1738–1744.

O’Donnell-Luria, A. H., Pais, L. S., Faundes, V., Wood, J. C., Sveden, A., Luria, V., Abou Jamra, R., Accogli, A., Amburgey, K., Anderlid, B. M., Azzarello-Burri, S., Basinger, A. A., Bianchini, C., Bird, L. M., Buchert, R., Carre, W., Ceulemans, S., Charles, P., Cox, H., Culliton, L., Currò, A., Deciphering Developmental Disorders (DDD) Study; Demurger, F., Dowling, J. J., Duban-Bedu, B., Dubourg, C., Eiset, S. E., Escobar, L. F., Ferrarini, A., Haack, T. B., Hashim, M., Heide, S., Helbig, K. L., Helbig, I., Heredia, R., Héron, D., Isidor, B., Jonasson, A. R., Joset, P., Keren, B., Kok, F., Kroes, H. Y., Lavillaureix, A., Lu, X., Maas, S. M., Maegawa, G. H. B., Marcelis, C. L. M., Mark, P. R., Masruha, M. R., McLaughlin, H. M., McWalter, K., Melchinger, E. U., Mercimek-Andrews, S., Nava, C., Pendziwiat, M., Person, R., Ramelli, G. P., Ramos, L. L. P., Rauch, A., Reavey, C., Renieri, A., Rieß, A., Sanchez-Valle, A., Sattar, S., Saunders, C., Schwarz, N., Smol, T., Srour, M., Steindl, K., Syrbe, S., Taylor, J. C., Telegrafi, A., Thiffault, I., Trauner, D. A., van der Linden Jr, H., van Koningsbruggen, S., Villard, L., Vogel, I., Vogt, J., Weber, Y. G., et al. (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am. J. Hum. Genet. 104, 1210–1222.

Reinhardt, F., Weber, Y. G., et al. (2019). Changes in drug load during lacosamide combination therapy: A noninterventional, observational study in German and Austrian clinical practice. Epilepsia Open 4, 409–419.

Schulz, H., Ruppert, A. K., Zara, F., Madia, F., Iacomino, M., Vari, M. S., Balagura, G., Minetti, C., Striano, P., Bianchi, A., Marini, C., Guerrini , R., Weber Y. G., et al. (2019). No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. Epilepsia 60.

Schwarz, N., Uysal, B., Welzer, M., Bahr, J. C., Layer, N., Loffler, H., Stanaitis, K., Pa, H., Weber, Y. G., Hedrich, U. B., Honegger, J. B., Skodras, A., Becker, A. J., Wuttke, T. V., Koch, H. (2019b). Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease. Elife 8.

Silvennoinen, K., de Lange, N., Zagaglia, S., Balestrini, S., Androsova, G., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., et al. (2019). Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open 4, 420–430.

Truong, V. T., Palmer, C., Wolking, S., (2019). Normal left atrial strain and strain rate using cardiac magnetic resonance feature tracking in healthy volunteers. Eur. Heart J. Cardiovasc. Imaging 21, 446-453.

Willikens, S., Wolking, S. (2019). A case of DRESS (drug reaction with eosinophilia and systemic symptoms) under treatment with eslicarbazepine. Seizure 72, 11–12.

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