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

Widman Group

Drug Trials

 

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Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y, European STXBP1 consortium (ESCO), STXBP1 foundation , Rubboli G, Møller RS, Gardella E : ’Early mortality in STXBP1-related disorders.’ Neurol Sci, 46(3):1339-1347

Yamoune S, Koch H, Delev D, Weber Y, Stingl JC : ’Evaluation of stabilizing additives to protect activities of cytochrome P450 enzymes for in vitro drug testing and pharmacogenetic studies: Focus on CYP2D6.’ BBA - GEN SUBJECTS, 1869(4)

Kalousios S, Hesser J, Dümpelmann M, Baumgartner C, Hamer HM, Hirsch M, Imbach L, Kaufmann E, Kegele J, Knake S, Leonhardt G, Mayer T, Mertens A, Pataraia E, von Podewils F, Quesada CM, Steinhoff BJ, Surges R, Voges BR, Wagner J, Weber YG, Wehner T, Winter Y, Schulze-Bonhage A : ’Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, noninterventional study protocol.’ BMJ Open, 15(2)

Schünemann KD, Hattingh RM, Verhoog MB, Yang D, Bak AV, Peter S, van Loo KMJ, Wolking S, Kronenberg- Versteeg D, Weber Y, Schwarz N, Raimondo JV, Melvill R, Tromp SA, Butler JT, Höllig A, Delev D, Wuttke TV, Kampa BM, Koch H : ’Comprehensive analysis of human dendritic spine morphology and density.’ J Neurophysiol, 133(4):1086-1102

Ganesan S, Ruggiero SM, Parthasarathy S, Galer PD, Lewis-Smith D, McSalley I, Cohen SR, Lusk L, Prentice AJ, McKee JL, Pendziwiat M, Smith L, Weber Y, Mefford HC, Poduri A, Helbig I : ’Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.’ bioRxiv

Jung M, Abu Shihada J, Decke S, Koschinski L, Graff PS, Maruri Pazmino S, Höllig A, Koch H, Musall S, Offenhäusser A, Rincón Montes V : ’Flexible 3D Kirigami Probes for In Vitro and In Vivo Neural Applications.’ Adv Mater Deerfield, 37(24)

Jütten K, Ort J, Kernbach JM, Meyer-Baese A, Meyer-Baese U, Hamou HA, Clusmann H, Wiesmann M, Bremer J, Koch H, Bak A, Ricklefs F, Drexler R, Heiland DH, Delev D : ’High peritumoral network connectedness in glioblastoma reveals a distinct epigenetic signature and is associated with decreased overall survival.’ Neuro-oncol, 27(10):2564-2573

Bhagubai M, Chatzichristos C, Swinnen L, Macea J, Zhang J, Lagae L, Jansen K, Schulze-Bonhage A, Sales F, Mahler B, Weber Y, Van Paesschen W, De Vos M : ’SeizeIT2: Wearable Dataset Of Patients With Focal Epilepsy.’ Sci Data, 12(1)

Cases-Cunillera S, Müller P, van Waardenberg AJ, Schoch S, Huberfeld G, Höllig A, Delev D, Hamed M, Becker AJ, van Loo KMJ : ’Single-nucleus RNA sequencing: immature excitatory neurons and transformed glia build human BRAFV600E-negative gangliogliomas.’ Brain Commun, 7(5)

Bi T, Koch H, Kremer B, Höllig A : ’Iron Hemostasis in Patients With Subarachnoid Hemorrhage and the Role of Early CSF Drainage.’ Neurology, 105(1)

Heckelmann J, Weber Y, Dafotakis M, Wolking S : ’Postictal punctate hippocampal diffusion restriction: the chicken or the egg?’ Front Neurol, 16

Heckelmann J, Schmitz B, Weber YG, Mann C : ’Epilepsy in women of childbearing age: a focused review.’ Neurol Res Pract, 7(1)

Karge RA, Fischer FP, Schüth H, Wechner A, Peter S, Kilo LA, Dichter M, Voigt A, Tavosanis G, van Loo KMJ, Koch H, Weber YG, Wolking S : ’Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.’ Dis Model Mech, 18(11)

Kučikiene D, Jungilligens J, Wolking S, Weber Y, Wellmer J, Popkirov S : ’Changes in brain network dynamics during functional/dissociative seizures: An exploratory pilot study on EEG microstates.’ Epilepsy Behav Rep, 31

Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy JS, Laugel V, Bricquir FL, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald S, Mansour-Hendili L, Maraval J, Mattausch C, Messaoud O, Morel G, Mortreux J, Munnich A, Nabbout R, Nambot S, Navarro V, Neale A, Nguyen L, Nizon M, Nowak F, O'Leary MC, Odent S, Ojeda NM, Olin V, Õunap K, Pais LS, Paluch R, Panagiotakaki E, Patat O, Perrin-Sabourin L, Petit F, Philippe C, Piton A, Planes M, Poirsier C, Pouzet A, Prouteau C, Quéméner-Redon S, Renaud M, Richard AC, Rio M, Rivier C, Robin-Renaldo F, Rollier P, Rossi M, Roubertie A, Rupin M, Saugier-Veber P, Saneto R, Sarrazin E, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy V, Smol T, Sunyaev S, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Lermine A, Nicolas G, Gleeson JG, Sadleir LG, Hildebrand MS, Scheffer IE, Whiffin N, O'Donnell-Luria A, Mefford HC, Blanc P, Thevenon J, Charbonnier C, Charenton C, Depienne C, Lesca G, Nava C : ’Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.’ medRxiv

Meconi A, Schmied K, Bak A, Pitsch J, Koch H, Schoch S, Becker AJ, van Loo KMJ : ’A New Toolbox to Label Zinc-MTF1 Responsive Neuronal Populations Unravels Cellular Congruence between MTF1 Responses and T-type Calcium Channelopathies in an Experimental Model of Epilepsy.’ Mol Neurobiol, 63(1)

Pérez Garriga A, Wolking S, Kegele J, Bosselmann CM, Coldewey B, Majeed RW, Röhrig R, Weber Y, Lipprandt M : ’Risk Management in "Other Clinical Investigations" According to Art. 82 MDR - Lessons Learnt from the EDITh Project.’ Stud Health Technol Inform, 332:2-6

Rosenow F, Berlit P, Weber Y : ’Epilepsy, seizures and hyperexcitability-a challenge in neurology.’ Neurol Res Pract, 7(1)

van Loo KMJ, Bak A, Hodge R, Bedogni F, Ramirez JSB, Emerson SN, Höllig A, Mansvelder HD, Goriounova NA, Ramirez JM, Koch H : ’What makes the human brain special: from cellular function to clinical translation.’ J Neurophysiol, 134(4):1197-1213

Reich H, Schreynemackers S, Amin R, Ludwig S, Zippelius J, Leimhofer J, Dunker T, Schriewer E, Carell A, Weber Y, Hegerl U, MONDY consortium : ’Links between selfmonitoring data collected through smartphones and smartwatches and the individual disease trajectories of adult patients with depressive disorders: Study protocol of a one-year observational trial.’ Contemp Clin Trials Commun, 45

Uher D, Drenthen GS, Hoeberigs CM, van Lanen RHGJ, Colon AJ, Haast RAM, van Kranen-Mastenbroek VHJM, Widman G, Hofman PAM, Wagner LG, Beckervordersandforth JC, Jansen JFA, Schijns OEMG, Backes WH, ACE study group : ’The role of ultra-high field MRI and image processing in the presurgical workup in MRI-negative focal epilepsy: A validated 7T MRI case study.’ Epilepsy Behav Rep, 30

Feng TF, Baqapuri HI, Zweerings J, Mathiak K : ’Complex Network Responses to Regulation of a Brain-Computer Interface During Semi-Naturalistic Behavior’ Appl. Sci.-Basel, 15(23)

Buchert R, Burkhalter MD, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M, Haack TB : ’Biallelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.’ Am J Hum Genet, 112(2):374-393

Leu C, Avbersek A, Stevelink R, Custodio HM, Chen S, Speed D, Bennett CA, Jonsson L, Unnsteinsdóttir U, Jorgensen AL, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Johnson MR, Koeleman BPC, Hassanin E, Omidvar ME, Krause R, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, May P, Neale BM, Lal D, Berkovic SF; Epi25 Collaborative; EpiPGX Consortium; Sisodiya SM : ’Genome-wide association metaanalyses of drug-resistant epilepsy.’ EBioMedicine, 115

Tröscher AR, Tsortouktzidis D, Ammer-Pickhardt F, Penzenleitner M, Aichholzer M, Rauch P, Rossmann T, Stroh-Holly N, Alti B, Gruber A, Helbok R, Haubold J, Thome C, Engelhardt M, von Oertzen TJ, Schoch S, Becker AJ, van Loo KM : ’HIF1α-dependent induction of the T-Type calcium channel CaV3.2 mediates hypoxia-induced neuronal hyperexcitability’

Kelly T, Döngi M, Rodriguez-Gatica JE, Ofer N, Wert- Carvajal C, Barboni M, Bethge P, Herde M, Tillmann J, Peter SI, Dupraz S, Koch H, Stein V, Bradke F, Tchumatchenko T, Schwarz MK, Kubitscheck U, Nägerl UV, Beck H : ’Nanoscale dendritic shaft constrictions shape synaptic integration in fine caliber principal neuron dendrites’

Kronenberg-Versteeg D, Erlebach L, Welzer M, Bartling T, Lee J, Wild K, Patzer K, Bühler A, Bulla-Miely D, Lambert M, Özata G, Panagiotakopoulou V, Haesler L, Ohmayer A, Wuttke T, Melki R, Nilsson P, Weigelin B, Casadei N, Neher J, Koch H, Hedrich-Klimosch U, Weir J, Jucker M : ’Chimeric organotypic brain slice cultures support the maturation and functional analysis of human iPSC-derived microglia’

Hellmig J, Boßelmann CM, Krause R, May P, Wolking S, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Koeleman BP, Marson AG, O’Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, Sisodiya SM, Lerche H, Pfeifer N : ’Predicting Drug Response with Multi-Task Gradient-Boosted Trees in Epilepsy’

Moaiyed V, Dukek L, Murray V, Lamine S, Dhaenens-Meyer LK, Weber Y, Habel U, Honrath P, Wolking S, Wagels L : ’Investigating Aggression in Epilepsy Patients: Behavioral and Neuroimaging Insights’

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

Bak A, Schmied K, Jakob ML, Bedogni F, Squire OA, Gittel B, Jesinghausen M, Schuenemann KD,Weber Y, Kampa B, van Loo KMJ, Koch H. Temporal Dynamics of Neocortical Development in Organotypic Mouse Brain Cultures: A Comprehensive Analysis. J Neurophysiol 132: 1038–1055, 2024b.

Berkovic SF, Neale BM, Zsurka G, Zizovic M, Zimprich F, Zara F, Zahnert F, Zagaglia S, Yücesan E, Yolken R, Yis U, Yapıcı Z, Yamakawa K, Wu D, von Wrede R, Wong I, Wolking S, Wolff M, Wolf SM, Wiebe S, Widdess-Walsh P, Weckhuysen S, Weber YG, Watts N, Wagner RG, von Spiczak S, von Brauchitsch S, Vlčková M, Vetro A, Vari MS, van Baalen A, Valton L, Vaidiswaran P, Utkus A, Uğur-İşeri S, Turkdogan D, Tumiene B, Tsai MH, Topaloglu P, Todaro M, Tinuper P, Timpson NJ, Timonen O, Tanteles GA, Taneja RS, Talkowski ME, Talarico M, Suzuki T, Surges R, Strzelczyk A, Striano P, Stipa C, Stewart WC, Štěrbová K, Stephani U, Steinhoff BJ, Stamberger H, Sperling MR, Sparks KR, Spalletta G, Solomonson M, Smoller JW, Sisodiya SM, Sills GJ, Siena SA, Shiedley BR, Sham PC, Shain C, Sedláčková L, Scudieri P, Schulze-Bonhage A, Schubert-Bast S, Schneider N, Scheffer IE, Schankin CJ, Schaller A, Schachter S, Scala M, Sammarra I, Salpietro V, Salmon A, Salman B, Sadleir LG, Saarela A, Ryvlin P, Rosenow F, Rojas E, Riva A, Ring SM, Rheims S, Reinthaler E, Reif A, Regan BM, Rees MI, Raynes HR, Rau S, Ramirez-Hamouz B, Ragona F, Rademacher A, Privitera M, Powell RHW, Posthuma D, Pondrelli F, Poduri A, Piras F, Piras F, Pippucci T, Pinto D, Pinsky R, Pickrell WO, Petrovski S, Pennell PB, Pendziwiat M, Pato M, Pato C, Parrini E, Papacostas SS, Palotie A, Özkara Ç, Owusu-Agyei S, O’Brien TJ, Novod S, Northstone K, Noebels JL, Newton CRJC, Neubauer BA, Neaves S, Nasreddine W, Najm IM, Müller-Schlüter K, Muhle H, Muccioli L, Mostacci B, Montomoli M, Minardi R, Millichap JJ, Michel V, Mei D, Meador KJ, McQuillan A, McIntosh A, McGraw CM, McGoldrick P, McCarroll SM, McArdle W, Mayer T, May P, Matthews AG, Marson AG, Marques P, Marcuse L, Maillard L, Magri S, Madia F, Madeleyn R, Macedo-Souza LI, Lui CHT, Lubbers L, Lowther C, Lowenstein DH, Lo W, Linnankivi T, Lin KL, Lin CH, Licchetta L, Liao C, Li GHY, Lewis-Smith D, Lewin N, Leu C, Lesca G, Lerche H, Lemke JR, Lehesjoki AE, Leech SL, Lawthom C, Lauxmann S, Laššuthová P, Lal D, Lacey A, Labate A, Vega-Talbott M La, Kwan P, Kuzniecky RI, Kurlemann G, Kunz WS, Krey I, Krestel H, Krenn M, Krause R, Kousiappa I, Koupparis A, Korinthenberg R, Korczyn AD, Kok F, Knake S, Kluger G, Klein KM, King C, Khoury J, Khoueiry-Zgheib N, Kesim Y, Kegele J, Kariuki SM, Kara B, Kanaan M, Kälviäinen R, Johnstone M, Johnson MR, Jehi L, Ishii A, Inuzuka LM, Inoue Y, Iacomino M, Hung PC, Hucks D, Howrigan DP, Hoeper O, Ho CJ, Hirsch E, Hirose S, Heyne H, Hengsbach C, Helbig I, Heinzen EL, Hegde M, Häusler M, Haryanyan G, Hakonarson H, Haas K, Gupta N, Gundogdu-Eken A, Guerrini R, Greenberg DA, Grant R, Granata T, Goldstein DB, Goldman A, Goldberg E, Glauser TA, Gili T, Giangregorio T, Gauthier L, Gambardella A, Gagliardi M, Gabriel S, Fu JM, Freri E, French JA, Franceschetti S, Fortunato F, Fonferko-Shadrach B, Fitzgerald M, Fields MC, Feucht M, Ferri L, Silva IF Da, Ferraro TN, Ferguson L, Feng YCA, Faucon A, Evans M, Epstein L, Ellis CA, El-Naggar H, Doherty CP, Doccini V, Dlugos DJ, Dickerson F, Vito L Di, Devinsky O, Derambure P, Depondt C, Dennig D, Delanty N, Jonghe P De, Davis LK, Daly MJ, Cusick C, Cotsapas C, Cossette P, Cosico M, Cole AJ, Clark PO, Ciullo V, Churchhouse C, Chung SK, Chou IJ, Cheung CL, Cherny SS, Cherian C, Chassoux F, Cerrato F, Cavalleri GL, Castellotti B, Canavati C, Canafoglia L, Caglayan SH, Busch RM, Buono RJ, Brockmann K, Brand H, Braatz V, Bosselmann C, Borggräfe I, Blatt I, Blackwood D, Bisulli F, Bianchini C, Beydoun A, Bennett CA, Becker F, Bebek N, Baykan B, Baumgartner TH, Baum LW, Bass N, Bartolomei F, Barboza K, Barba C, Banks E, Balestrini S, Balagura G, Baker MD, Bahlo M, Auce P, Arslan M, Annesi G, Andrade DM, Anderson J, Anderson A, Amadori E, Ali QZ, Afawi Z, Abou-Khalil BW, Chen S. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nat Neurosci 27, 2024.

Brenner A, Knispel F, Fischer FP, Rossmanith P, Weber Y, Koch H, Röhrig R, Varghese J, Kutafina E. Concept-based AI interpretability in physiological time-series data: Example of abnormality detection in electroencephalography. Comput Methods Programs Biomed 257, 2024.

Coldewey B, Honrath P, Wolking S, Niemeyer A, Röhrig R, Weber Y, Lipprandt M. Visualising Data Models of Patient Registries and Clinical Studies - A Method for Quality Check of EDC Systems. Stud Health Technol Inform 317: 95–104, 2024.

Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y, Weckhuysen S, Verhage M, Thalwitzer KM, Syrbe S, Striano P, Stamberger H, Møller RS, Milh M, Cazorla ÁG, Darling A, Bruining H, Benzeev B, Balagura G, Rubboli G, Møller RS, Gardella E. Early mortality in STXBP1-related disorders. Neurol. Sci. (2024). doi: 10.1007/s10072-024-07783-3.

Fürstenau E, Lindauer U, Koch H, Höllig A. Secondary Ischemia Assessment in Murine and Rat Preclinical Subarachnoid Hemorrhage Models: A Systematic Review. J Am Hear Assoc J Am Hear Assoc 13: 32694, 2024.

De Giorgis V, Bhatia KP, Boespflug-Tanguy O, Gras D, Marina A Della, Desurkar A, Toledo M, Miller I, Rotstein M, Schneider SA, Tarquinio DC, Weber Y, Brandabur M, Mayhew J, Koutsoukos T, De Vivo DC. Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study. Mov Disord 39: 1386–1396, 2024.

Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee T-T, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe J-M, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Brain malformations and seizures by impaired chaperonin function of TRiC. Science 386: 516–525, 2024.

Kučikienė D, Rajkumar R, Timpte K, Heckelmann J, Neuner I, Weber Y, Wolking S. EEG microstates show different features in focal epilepsy and psychogenic nonepileptic seizures. Epilepsia 65: 974–983, 2024.

Lauxmann S, Heuer D, Heckelmann J, Fischer FP, Schreiber M, Schriewer E, Widman G, Weber Y, Lerche H, Alber M, Schuh-Hofer S, Wolking S. Cenobamate: real-world data from a retrospective multicenter study. J Neurol 271, 2024.

Mayerhofer E, Parodi L, Narasimhalu K, Wolking S, Harloff A, Georgakis MK, Rosand J, Anderson CD. Genetic variation supports a causal role for valproate in prevention of ischemic stroke. Int J Stroke 19: 84–93, 2024.

Nevelchuk S, Brawek B, Schwarz N, Valiente-Gabioud A, Wuttke T V., Kovalchuk Y, Koch H, Höllig A, Steiner F, Figarella K, Griesbeck O, Garaschuk O. Morphotype-specific calcium signaling in human microglia. J Neuroinflammation 21, 2024.

Pérez Garriga A, Honrath P, Wolking S, Coldewey B, Bozkir SA, May P, Weber Y, Röhrig R, Lipprandt M. Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard. Stud Health Technol Inform 316: 354–355, 2024.

Ramos-Moreno T, Cifra A, Litsa NL, Melin E, Ahl M, Christiansen SH, Gøtzsche CR, Cescon M, Bonaldo P, van Loo K, Borger V, Jasper JA, Becker A, van Vliet EA, Aronica E, Woldbye DP, Kokaia M. Collagen VI: Role in synaptic transmission and seizure-related excitability. Exp Neurol 380, 2024.

Yang D, Qi G, Ort J, Witzig V, Bak A, Delev D, Koch H, Feldmeyer D. Modulation of large rhythmic depolarizations in human large basket cells by norepinephrine and acetylcholine. Commun Biol 7: 885, 2024.

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

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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.

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