Research

Epilepsy is one of the most common neurological diseases with approximately 50 million patients worldwide. The disease is defined by unprovoked and repetitive epileptic seizures, can start at any moment in life, and affects all genders and people equally. The socio-medical burden of the disease is immense: it causes socio-economic hardship and is associated with neuropsychological decline and a risk of early death during seizures. Aachen has emerged as an exciting nexus for epilepsy research. Marked by Prof. Dr. Yvonne Weber's appointment in 2019, the landscape was rejuvenated. She ushered in a new era of innovation, bringing esteemed colleagues from the University of Tübingen, notably PD Dr. Stefan Wolking and Dr. Henner Koch, Dr. Karen van Loo from the University of Bonn, and Dr. Guido Widman from the Epilepsy Centre Kempenhaege. Their joint efforts catalyzed local research growth, fostering ties with the RWTH, the Research Centre in Jülich, and expanding their footprint internationally. Since this revitalization, a surge of collaborative projects has blossomed, supported by diverse funding sources, including local grants, BMBF, DFG, and the Chan-Zuckerberg initiative.

Research Groups

Koch Group

Network properties and microstructure of the human brain

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Van Loo Group

Molecular mechanisms of epileptogenesis

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Wolking Group

Genetic / Multimodal Biomarkers in Epilepsies

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Weber Group

Medical Devices

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Honrath Group

Clinical neuropsychology

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Widman Group

Drug Trials

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Publikationen

Bak A, Koch H, van Loo KMJ, Schmied K, Gittel B,Weber Y, Ort J, Schwarz N, Tauber SC, Wuttke T V., Delev D. 2024. Human organotypic brain slice cultures: a detailed and improved protocol for preparation and long-term maintenance. J Neurosci Methods 110055. doi:10.1016/j.jneumeth.2023.110055

Taylor LW, Simzer EM, Pimblett C, Lacey-Solymar OTT, McGeachan RI, Meftah S, Rose JL, Spires-Jones MP, Holt K, Catterson JH, Koch H, Liaquat I, Clarke JH, Skidmore J, Smith C, Booker SA, Brennan PM, Spires-Jones TL, Durrant CS. 2024. p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003. Acta Neuropathol147:7. doi:10.1007/s00401-023-02667-w

Alhaskir M, Bauer J, Linke F, Schriewer E, Weber Y, Wolking S, Röhrig R, Rothermel M, Koch H, Kutafina E. 2023a. Spectral Fusion of Heartbeat and Accelerometer Data for Estimation of Breathing Rate in Wearable Patches. Stud Health Technol Inform302:1025–1026. doi:10.3233/SHTI230336

Alhaskir M, Tschesche M, Linke F, Schriewer E, Weber Y, Wolking S, Röhrig R, Koch H, Kutafina E. 2023b. ECG Matching: An Approach to Synchronize ECG Datasets for Data Quality Comparisons. Stud Health Technol Inform307:225–232. doi:10.3233/SHTI230718

Bauer J, Devinsky O, Rothermel M, Koch H. 2023. Autonomic dysfunction in epilepsy mouse models with implications for SUDEP research. Front Neurol. doi:10.3389/fneur.2022.1040648

Boßelmann C, Borggräfe I, Fazeli W, Klein KM, Kluger GJ, Müller-Schlüter K, Neubauer BA, von Spiczak S, Steinbeis von Stülpnagel C, Weber Y, Lemke JR, Wolking S, Krey I. 2023. Genetic diagnostics in epilepsies: recommendations of the Commission Epilepsy and Genetics of German Society of Epileptology (German ILAE Chapter). Clin Epileptol36:224–237. doi:10.1007/s10309-023-00580-6

Dhaenens-Meyer LKL, Schriewer E, Weber YG, Wolking S. 2023. Video-EEG-monitoring to guide antiseizure medication withdrawal. Neurol Res Pract5. doi:10.1186/s42466-023-00248-6

Fischer FP, Karge RA, Weber YG, Koch H, Wolking S, Voigt A. 2023. Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview. Front Mol Neurosci16:1116000. doi:10.3389/fnmol.2023.1116000

Galvis-Montes DS, van Loo KMJ, van Waardenberg AJ, Surges R, Schoch S, Becker AJ, Pitsch J. 2023. Highly dynamic inflammatory and excitability transcriptional profiles in hippocampal CA1 following status epilepticus. Sci Rep13. doi:10.1038/s41598-023-49310-y

Hoppe B, Weber Y, Wolking S. 2023. Interactions between anti-seizure medications and recommendations for combination treatment. Nervenarzt94:149–158. doi:10.1007/s00115-022-01434-8

Karge R, Knopp C, Weber Y, Wolking S. 2023. Genetics of nonlesional focal epilepsy in adults and surgical implications. Clin Epileptol36:91–97. doi:10.1007/s10309-023-00568-2

Kasture AS, Fischer FP, Kunert L, Burger ML, Burgstaller AC, El-Kasaby A, Hummel T, Sucic S. 2023. Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants. Front Neurosci16. doi:10.3389/fnins.2022.1074427

Kyriazi M, Müller P, Pitsch J, Van Loo KMJ, Quatraccioni A, Opitz T, Schoch S, Becker AJ, Cases-Cunillera S. 2023. Neurochemical Profile of BRAFV600E/AktT308D/S473DMouse Gangliogliomas Reveals Impaired GABAergic System Inhibition. Dev Neurosci45:53–65. doi:10.1159/000528587

Mayerhofer E, Parodi L, Narasimhalu K, Wolking S, Harloff A, Georgakis MK, Rosand J, Anderson CD. 2023. Genetic variation supports a causal role for valproate in prevention of ischemic stroke. Int J Stroke. doi:10.1177/17474930231190259

Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M, Motelow JE, Povysil G, Dhindsa RS, Stanley KE, Allen AS, Goldstein DB, Feng YCA, Howrigan DP, Abbott LE, Tashman K, Cerrato F, Cusick C, Singh T, Heyne H, Byrnes AE, Churchhouse C, Watts N, Solomonson M, Lal D, Gupta N, Neale BM, Berkovic SF, Lerche H, Lowenstein DH, Cavalleri GL, Cossette P, Cotsapas C, De Jonghe P, Dixon-Salazar T, Guerrini R, Hakonarson H, Heinzen EL, Helbig I, Kwan P, Marson AG, Petrovski S, Kamalakaran S, Sisodiya SM, Stewart R, Weckhuysen S, Depondt C, Dlugos DJ, Scheffer IE, Striano P, Freyer C, Krause R, May P, McKenna K, Regan BM, Bennett CA, Leech SL, Leu C, Lewis-Smith D, O’Brien TJ, Todaro M, Stamberger H, Depondti C, Andrade DM, Ali QZ, Sadoway TR, Krestel H, Schaller A, Papacostas SS, Kousiappa I, Tanteles GA, Yiolanda C, Šterbová K, Vlcková M, Sedlácková L, Laššuthová P, Klein KM, Rosenow F, Reif PS, Knake S, Neubauer BA, Zimprich F, Feucht M, Reinthaler E, Kunz WS, Zsurka G, Surges R, Baumgartner TH, von Wrede R, Helbig I, Pendziwiat M, Muhle H, Rademacher A, van Baalen A, von Spiczak S, Stephani U, Afawi Z, Korczyn AD, Kanaan M, Canavati C, Kurlemann G, Müller-Schlüter K, Kluger G, Häusler M, Blatt I, Lemke JR, Krey I, Weber YG, Wolking S, Becker F, Lauxmann S, Bosselmann C, Kegele J, Hengsbach C, Rau S, Steinhoff BJ, Schulze-Bonhage A, Borggräfe I, Schankin CJ, Schubert-Bast S, Schreiber H, Mayer T, Korinthenberg R, Brockmann K, Wolff M, Kurlemann G, Dennig D, Madeleyn R, Kälviäinen R, Saarela A, Timonen O, Linnankivi T, Lehesjoki AE, Rheims S, Lesca G, Ryvlin P, Maillard L, Valton L, Derambure P, Bartolomei F, Hirsch E, Michel V, Chassoux F, Rees MI, Chung SK, Pickrell WO, Powell RHW, Baker MD, Fonferko-Shadrach B, Lawthom C, Anderson J, Schneider N, Balestrini S, Zagaglia S, Braatz V, Johnson MR, Auce P, Sills GJ, Kwan P, Baum LW, Sham PC, Cherny SS, Lui CHT, Delanty N, Doherty CP, Shukralla A, El-Naggar H, Widdess-Walsh P, Barišic N, Canafoglia L, Franceschetti S, Castellotti B, Granata T, Ragona F, Zara F, Iacomino M, Riva A, Madia F, Vari MS, Salpietro V, Scala M, Mancardi MM, Lino N, Amadori E, Giacomini T, Bisulli F, Pippucci T, Licchetta L, Minardi R, Tinuper P, Muccioli L, Mostacci B, Gambardella A, Labate A, Annesi G, Manna L, Gagliardi M, Parrini E, Mei D, Vetro A, Bianchini C, Montomoli M, Doccini V, Barba C, Hirose S, Ishii A, Suzuki T, Inoue Y, Yamakawa K, Beydoun A, Nasreddine W, Khoueiry-Zgheib N, Tumiene B, Utkus A, Sadleir LG, King C, Caglayan SH, Arslan M, Yapici Z, Topaloglu P, Kara B, Yis U, Turkdogan D, Gundogdu-Eken A, Bebek N, Ugur-Iseri S, Baykan B, Salman B, Haryanyan G, Yücesan E, Kesim Y, Özkara Ç, Tsai MH, Ho CJ, Lin CH, Lin KL, Chou IJ, Poduri A, Shiedley BR, Shain C, Noebels JL, Goldman A, Busch RM, Jehi L, Najm IM, Lal D, Ferguson L, Khoury J, Glauser TA, Clark PO, Buono RJ, Ferraro TN, Sperling MR, Dlugos DJ, Lo W, Privitera M, French JA, Schachter S, Kuzniecky RI, Devinsky O, Hegde M, Greenberg DA, Ellis CA, Goldberg E, Helbig KL, Cosico M, Vaidiswaran P, Fitch E, Newton CRJC, Kariuki SM, Wagner RG, Owusu-Agyei S, Cole AJ, McGraw CM, Siena SA, Davis L, Hucks D, Faucon A, Wu D, Abou-Khalil BW, Haas K, Taneja RS, Helbig I, Leu C, Lal D. 2023. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun14. doi:10.1038/s41467-023-39539-6

Pérez Garriga A, Wolking S, Fortmann J, Majeed RW, Stockem C, Niekrenz L, Bosselmann C, Weber Y, Röhrig R, Lipprandt M. 2023. Modeling Clinical Guidelines for an Epilepsy-CDSS: The EDiTh ProjectStudies in Health Technology and Informatics. IOS Press BV. pp. 611–612. doi:10.3233/SHTI230218

Stevelink R, Campbell C, Chen S, Abou-Khalil B, Adesoji OM, Afawi Z, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Auce P, Avbersek A, Bahlo M, Baker MD, Balagura G, Balestrini S, Barba C, Barboza K, Bartolomei F, Bast T, Baum L, Baumgartner T, Baykan B, Bebek N, Becker AJ, Becker F, Bennett CA, Berghuis B, Berkovic SF, Beydoun A, Bianchini C, Bisulli F, Blatt I, Bobbili DR, Borggraefe I, Bosselmann C, Braatz V, Bradfield JP, Brockmann K, Brody LC, Buono RJ, Busch RM, Caglayan H, Campbell E, Canafoglia L, Canavati C, Cascino GD, Castellotti B, Catarino CB, Cavalleri GL, Cerrato F, Chassoux F, Cherny SS, Cheung CL, Chinthapalli K, Chou IJ, Chung SK, Churchhouse C, Clark PO, Cole AJ, Compston A, Coppola A, Cosico M, Cossette P, Craig JJ, Cusick C, Daly MJ, Davis LK, de Haan GJ, Delanty N, Depondt C, Derambure P, Devinsky O, Di Vito L, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Elger CE, Ellis CA, Eriksson JG, Faucon A, Feng YCA, Ferguson L, Ferraro TN, Ferri L, Feucht M, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, Franke A, French JA, Freri E, Gagliardi M, Gambardella A, Geller EB, Giangregorio T, Gjerstad L, Glauser T, Goldberg E, Goldman A, Granata T, Greenberg DA, Guerrini R, Gupta N, Haas KF, Hakonarson H, Hallmann K, Hassanin E, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne HO, Hirose S, Hirsch E, Hjalgrim H, Howrigan DP, Hucks D, Hung PC, Iacomino M, Imbach LL, Inoue Y, Ishii A, Jamnadas-Khoda J, Jehi L, Johnson MR, Kälviäinen R, Kamatani Y, Kanaan M, Kanai M, Kantanen AM, Kara B, Kariuki SM, Kasperavičiūte D, Kasteleijn-Nolst Trenite D, Kato M, Kegele J, Kesim Y, Khoueiry-Zgheib N, King C, Kirsch HE, Klein KM, Kluger G, Knake S, Knowlton RC, Koeleman BPC, Korczyn AD, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurki MI, Kurlemann G, Kuzniecky R, Kwan P, Labate A, Lacey A, Lal D, Landoulsi Z, Lau YL, Lauxmann S, Leech SL, Lehesjoki AE, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GHY, Li QS, Licchetta L, Lin KL, Lindhout D, Linnankivi T, Lopes-Cendes I, Lowenstein DH, Lui CHT, Madia F, Magnusson S, Marson AG, May P, McGraw CM, Mei D, Mills JL, Minardi R, Mirza N, Møller RS, Molloy AM, Montomoli M, Mostacci B, Muccioli L, Muhle H, Müller-Schlüter K, Najm IM, Nasreddine W, Neale BM, Neubauer B, Newton CRJC, Nöthen MM, Nothnagel M, Nürnberg P, O’Brien TJ, Okada Y, Ólafsson E, Oliver KL, Özkara Ç, Palotie A, Pangilinan F, Papacostas SS, Parrini E, Pato CN, Pato MT, Pendziwiat M, Petrovski S, Pickrell WO, Pinsky R, Pippucci T, Poduri A, Pondrelli F, Powell RHW, Privitera M, Rademacher A, Radtke R, Ragona F, Rau S, Rees MI, Regan BM, Reif PS, Rhelms S, Riva A, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Sander JW, Sander T, Scala M, Scattergood T, Schachter SC, Schankin CJ, Scheffer IE, Schmitz B, Schoch S, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sham P, Sheidley BR, Shih JJ, Sills GJ, Sisodiya SM, Smith MC, Smith PE, Sonsma ACM, Speed D, Sperling MR, Stefansson H, Stefansson K, Steinhoff BJ, Stephani U, Stewart WC, Stipa C, Striano P, Stroink H, Strzelczyk A, Surges R, Suzuki T, Tan KM, Taneja RS, Tanteles GA, Taubøll E, Thio LL, Thomas GN, Thomas RH, Timonen O, Tinuper P, Todaro M, Topaloğlu P, Tozzi R, Tsai MH, Tumiene B, Turkdogan D, Unnsteinsdóttir U, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vetro A, Vining EPG, Visscher F, von Brauchitsch S, von Wrede R, Wagner RG, Weber YG, Weckhuysen S, Weisenberg J, Weller M, Widdess-Walsh P, Wolff M, Wolking S, Wu D, Yamakawa K, Yang W, Yapıcı Z, Yücesan E, Zagaglia S, Zahnert F, Zara F, Zhou W, Zimprich F, Zsurka G, Zulfiqar Ali Q. 2023. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet55:1471–1482. doi:10.1038/s41588-023-01485-w

Timpte K, Rosenkötter U, Honrath P, Weber Y, Wolking S, Heckelmann J. 2023. Assessing 72 h vs. 24 h of long-term video-EEG monitoring to confirm the diagnosis of epilepsy: a retrospective observational study. Front Neurol14:1281652. doi:10.3389/fneur.2023.1281652

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.

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.

Grimm, A., Winter, N., Wolking, S., et.al. (2017). Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key. Neurol. Sci. Off. J. Ital. Neurol. Soc. Ital. Soc. Clin. Neurophysiol. 38, 1525–1527.

Perez-Palma, E., Helbig, I., Klein, K. M., Anttila, V., Horn, H., Reinthaler, E. M., Gormley, P., Ganna, A., Byrnes, A., Pernhorst, K., Pérez-Palma, E., Helbig, I., Klein, K. M., Anttila, V., Horn, H., Reinthaler, E. M., Gormley, P., Ganna, A., Byrnes, A., Pernhorst, P., Toliat, M. R., Saarentaus, E., Howrigan, D. P., Hoffman, P., Miquel, J. F., De Ferrari, G. V., Nürnberg, P., Lerche, H., Zimprich, F., Neubauer, B. A., Becker, A. J., Rosenow, F., Perucca, E., Zara, F., Weber, Y. G., et al. (2017). Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. J. Med. Genet. 54, 598–606.

Schwarz, N., Hedrich, U. B. S., Schwarz, H., Harshad, P. A., Dammeier, N., Auffenberg, E., Bedogni, F., Honegger, J. B., Lerche, H., Wuttke, T. V., Koch, H. (2017). Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures. Sci. Rep. 7, 1–12.

Theiss, S., Maetzler, W., Deuschle, C., Lerche, H., Koch, H., et al. (2017). Dementia with Lewy bodies: Cerebrospinal fluid suppresses neuronal network activity. Neuroreport 28, 1061-1065.

Weber, Y. G., et al. (2017). The role of genetic testing in epilepsy diagnosis and management. Expert Rev. Mol. Diagn. 17, 739–750.

Weiss, D., Zrenner, B., Wolking, S., et al. (2017). Macrodactylia lipomatosa with fibrolipomatous hamartomas: Macroscopic and ultrasound clues. Clin. Neurophysiol. 128, 1315–1316.