Forschung

Die Arbeitsgruppe Klinische und Pathophysiologische Epileptologie beschäftigt sich mit der Untersuchung von verschiedenen Ätiologien der Epilepsie mit einem Schwerpunkt auf genetischen Epilepsien. Die Epilepsie gehört zu den häufigsten neurologischen Erkrankungen. Die verschiedenen Ursachen umfassen neben läsionellen (z. B. zerebrale Ischämien) und entzündlichen (z. B. autoimmune Enzephalitiden) auch genetische Ursachen, wobei bis zu 30% der Epilepsien genetischen Einflussfaktoren unterliegen.

Ziel ist es, die Entstehung einer Epilepsie und verwandten Erkrankungen weiter zu verstehen und daraus individualisierte, krankheitsspezifische Therapiestrategien zu entwickeln.

Folgende Projekte werden aus dem Grunde derzeit verfolgt:

Publikationen

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.

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.

Wolking, S., May, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzarra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., Brown, K., Saenz, M. S., Dorn, T., Muhle, H., Pagnamenta, A. T., Vavoulis, D. V., Knight, S. J. L., Taylor, J. C., Canevini, M. P., Darra, F., Gavrilova, R. H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E. W., Kluger, G. J., Lowenstein, D. H., Weckhuysen, S., Pal, D. K., Helbig, I., Guerrini, R., Thomas, R. H., Rees, M. I., Lesca, G., Sisodiya, S. M., Weber, Y. G., et al. (2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology 92.

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

Truong, V.T., Palmer, C., Wolking, S., Sheets, B., Young, M., Ngo, T.N.M., Taylor, M., Nagueh, S.F., Zareba, K.M., Raman, S., et al. (2019). Normal left atrial strain and strain rate using cardiac magnetic resonance feature tracking in healthy volunteers. Eur. Heart J. Cardiovasc. Imaging.

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

Wolking, S., May, P., Mei, D., Møller, R.S., Balestrini, S., Helbig, K.L., Altuzarra, C.D., Chatron, N., Kaiwar, C., Stöhr, K., et al. (2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology 92, e1238–e1249.

Bernhard, F. P., Sartor, J., Bettecken, K., Hobert, M. A., Arnold, C., Weber, Y. G., et al. (2018). Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients. BMC Neurol. 18, 114.

Dubey, M., Brouwers, E., Hamilton, E. M. C., Stiedl, O., Bugiani, M., Koch, H., et al. (2018). Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. Ann. Neurol. 83, 636–649.

International League Against Epilepsy Consortium on Complex Epilepsies (2018). Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat. Commun. 9, 5269.

Hamer, H. M., Pfafflin, M., Baier, H., Bosebeck, F., Franz, M., Holtkamp, M., Kurlemann, G., May, T. W., Mayer, T., Metzner, M., Steinhoff, B. J., Stodieck, S., Straub, H., Weber, Y. G., et al. (2018). Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers. Epilepsy Behav. 82, 64–67.

Heyne, H. O., Singh, T., Stamberger, H., Abou Jamra, R., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T. , May, P., Muhle, H., Møller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S., EuroEPINOMICS RES Consortium; Poduri, A., Weber, Y. G., et al. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nat. Genet. 50, 1048–1053.

Jabbari, K., Bobbili, D. R., Lal, D., Reinthaler, E. M., Schubert, J., Wolking, S., et al. (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One 13.

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A.-E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M.-T., Chelly, J., Piton, A., Merritt 2nd, J. L., Rodan, L. H., Tan, W., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M., Chae, J., Czapansky-Beilman, D., Reichert S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., et al. (2018). Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 59, 389–402.

Koch, H., Weber, Y. G. (2018). The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav. 1, 4–7.

May, P., Girard, S., Harrer, M., Bobbili, D. R., Schubert, J., Wolking, S., Becker, F., Lachance-Touchette, P., Meloche, C., Gravel, M., Niturad, C. E., Knaus, J., De Kovel, C., Toliat, M., Polvi, A., Iacomino, M., Guerrero-López, R., Baulac, S., Marini, C., Thiele, H., Altmüller, J., Jabbari, K., Ruppert, A., Jurkowski, W., Lal, D., Rusconi, R., Cestèle, S., Terragni, B., Coombs, I. D., Reid, C. A., Striano, P., Caglayan, H., Siren, A., Everett, K., Møller, R. S., Hjalgrim, H., Muhle, H., Helbig, I., Kunz, W. S., Weber, Y. G., et al. (2018). Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 17, 699–708.

McCormack, M., Gui, H., Ingason, A., Speed, D., Wright, G. E. B., Zhang, E. J., Secolin, R., Yasuda, C., Kwok, M., Wolking, S., et al. (2018). Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. Neurology 90.

Zaman, S. M., Mullen, S. A., Petrovski, S., Maljevic, S., Gazina, E. V, Phillips, A. M., Jones, G. D., Hildebrand, M. S., Damiano, J., Auvin, S., Lerche, H., Weber, Y. G., et al. (2018). Development of a rapid functional assay that predicts GLUT1 disease severity. Neurol. Genet. 4.

Androsova, G., Krause, R., Borghei, M., Wassenaar, M., Auce, P., Avbersek, A., Becker, F., Berghuis, B., Campbell, E., Coppola, A., Francis, B., Wolking, S., et al. (2017). Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia 58, 1734–1741.

Becker, F., Reid, C. A., Hallmann, K., Tae, H.-S., Phillips, A. M., Teodorescu, G., Weber, Y. G., et al. (2017). Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. Epilepsia Open 2, 334–342.

Berghuis, B., van der Palen, J., de Haan, G.-J., Lindhout, D., Koeleman, B. P. C., Sander, J. W., EpiPGX Consortium. (2017). Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy. Epilepsia 58, 1227–1233.

Dohrn, M. F., Glockle, N., Mulahasanovic, L., Heller, C., Mohr, J., Bauer, C., Riesch, E., Becker, A., Battke, F., Hortnagel, K., Hornemann, T., Suriyanarayanan, S., Blankenburg, M., Schulz, J. B., Claeys ,K. G., Gess, G., Katona, I., Ferbert, A., Vittore, D., Grimm, A., Wolking S., et al. (2017). Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J. Neurochem. 143, 507–522.

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