Wolking Group
Genetic / Multimodal Biomarkers in Epilepsies
Our work group pursues a translational path to generate multimodal biomarkers and predictors for diagnostic, prognostic and therapeutic aspects of epilepsies. We have a strong on focus on genetic epilepsies – exploring the interplay of polygenicity and phenotypes and determining the phenotype-genotype associations in monogenic epilepsies, using drosophila flies as model organism. We also employ clinical, imaging, and electrophysiologic data to determine diagnostic and prognostic predictors.
PD Dr. Stefan Wolking, MBA
swolkingukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241- 80-85829
Members
PD Dr. Stefan Wolking, MBA
swolkingukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241- 80-85829
Dr. med. Jan Heckelmann
jheckelmannukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Dr. med. Domantė Kučikienė
dkucikieneukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-85829
Robin Karge, Msc
rokargeukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Dr. med. univ. Florian Fischer
flfischerukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Vesal Moaiyed, Msc
vmoaiyedukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Dr. Katharina Timpte, cand. med.
ktimpteukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-85829
Kristin Engelke, cand. med.
kengelkeukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Dr. med. Julia Koch
julkochukaachende
Address
Dept. of Neurology, Section Epileptology
University of Aachen
Pauwelsstrasse 30
52074 Aachen, Germany
Tel. +49-(0)241-80-85829
Research projects and techniques
Only a fraction of genetic epilepsies is explained by single genetic variants. The larger share of genetic epilepsies is based on a complex genetic architecture that implies the influence of numerous genetic and potentially epigenetic factors. Even monogenetic epilepsy syndromes often feature a remarkable interindividual phenotypic heterogeneity that suggests an interplay of further genetic factors. Drug-resistance i.e., the failure to achieve seizure freedom despite adequate medication, presents another of the great challenges in epileptology.
The aim of our work group is contributing to achieve a better understanding of the genetic architecture of epilepsies and to investigate genetic biomarkers that could help improve diagnostics and genetic counseling in the epilepsy field. We also seek to determine genetic predictors for individual drug response to anti-seizure medication and post-surgical outcome to pave the way to personalized therapeutic pathways.
Drosophila melanogaster is an established epilepsy model with multiple epileptic phenotypes. Besides well-known epilepsy fly lines, such as parabss1 and eas, we use different methods to generate transgenic flies (GAL4/UAS, CRIMIC) that either express altered fly genes or humanized genes. We focus on synaptic epilepsy genes, such as AP2M1, STXBP1, and STX1B that have a high degree of orthology with fly genes. We use behavioral experiments, Calcium-imaging, and diferent electrostimulation techniques to elicit specific epileptic phenotypes. We also use various anti-seizure medications to study their effect on the epileptic phenotypes in flies.
Electroencephalography (EEG) is one of the mainstays for the diagnostic and assessment of people with epilepsy and other seizure-like episodes. Long-term-EEG recordings via video-EEG-monitoring and invasive recording methods, such as stereo EEG (sEEG) and intraoperative electrocorticography provide indispensable insights to tailor surgical interventions for drug-resistant epilepsy.
The aim of our work group is the investigation of EEG signals as biomarkers for diagnostics and outcome prediction. We employ biosignals from multiple EEG modalities: video-EEG-Monitoring, routine EEG, 128-channel-EEG, sEEG and intraoperative ECoG. The analyses comprise the evaluation of physiological signals, the assessment of high frequency oscillations (HFOs), and the EEG post-processing based on microstate analyses.
In direct cooperation with the Clinic for Psychiatry, Psychotherapy, and Psychosomatic Medicine (work group L. Wagels) we currently investigate imaging and neuropsychological biomarkers for aggressive behavior in people with epilepsy. The focus of this project is on aggressive behavior as an adverse reaction to anti-seizure medications (ASM). We employ various paradigms to incite and measure aggressive behavior und assess brain functional characteristics. This research could help develop clinical predictors for ASM tolerability and thus improve the safety of the therapeutic management.
Publications
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. 2024 Jan 30. doi: 10.1111/epi.17897. Epub ahead of print. PMID: 38289522.
2023
Timpte K, Rosenkötter U, Honrath P, Weber Y, Wolking S, Heckelmann J. Assessing 72 h vs. 24 h of long-term video-EEG monitoring to confirm the diagnosis of epilepsy: a retrospective observational study. Front Neurol. 2023 Oct 20;14:1281652. doi: 10.3389/fneur.2023.1281652. PMID: 37928154; PMCID: PMC10622959.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. PMID: 37790589; PMCID: PMC10542409.
Alhaskir M, Tschesche M, Linke F, Schriewer E, Weber Y, Wolking S, Röhrig R, Koch H, Kutafina E. ECG Matching: An Approach to Synchronize ECG Datasets for Data Quality Comparisons. Stud Health Technol Inform. 2023 Sep 12;307:225-232. doi: 10.3233/SHTI230718. PMID: 37697857.
International League Against Epilepsy Consortium on Complex Epilepsies. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nat Genet. 2023 Sep;55(9):1471-1482. doi: 10.1038/s41588-023-01485-w. Epub 2023 Aug 31. PMID: 37653029; PMCID: PMC10484785.
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. 2023 Jul 25:17474930231190259. doi: 10.1177/17474930231190259. Epub ahead of print. PMID: 37489815.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. PMID: 37474567; PMCID: PMC10359300.
Pérez Garriga A, Wolking S, Fortmann J, Majeed RW, Stockem C, Niekrenz L, Bosselmann C, Weber Y, Röhrig R, Lipprandt M. Modeling Clinical Guidelines for an Epilepsy-CDSS: The EDiTh Project. Stud Health Technol Inform. 2023 May 18;302:611-612. doi: 10.3233/SHTI230218. PMID: 37203761.
Alhaskir M, Bauer J, Linke F, Schriewer E, Weber Y, Wolking S, Röhrig R, Rothermel M, Koch H, Kutafina E. Spectral Fusion of Heartbeat and Accelerometer Data for Estimation of Breathing Rate in Wearable Patches. Stud Health Technol Inform. 2023 May 18;302:1025-1026. doi: 10.3233/SHTI230336. PMID: 37203571.
Dhaenens-Meyer LKL, Schriewer E, Weber YG, Wolking S. Video-EEG-monitoring to guide antiseizure medication withdrawal. Neurol Res Pract. 2023 May 18;5(1):20. doi: 10.1186/s42466-023-00248-6. PMID: 37198666; PMCID: PMC10193797.
Fischer FP, Karge RA, Weber YG, Koch H, Wolking S, Voigt A. Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview. Front Mol Neurosci. 2023 Feb 16;16:1116000. doi: 10.3389/fnmol.2023.1116000. PMID: 36873106; PMCID: PMC9978166.
Hoppe B, Weber Y, Wolking S. Interaktionen zwischen anfallssupprimierenden Medikamenten und Empfehlungen für Kombinationstherapien [Interactions between anti-seizure medications and recommendations for combination treatment]. Nervenarzt. 2023 Feb;94(2):149-158. German. doi: 10.1007/s00115-022-01434-8. Epub 2023 Jan 25. PMID: 36695895.
2022
Campbell C, Leu C, Feng YA, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L; Epi4K Collaborative; Genomics England Research Consortium; Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL; Epi25 Collaborative. The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine. 2022 Jul;81:104098. doi: 10.1016/j.ebiom.2022.104098. Epub 2022 Jun 6. PMID: 35679801; PMCID: PMC9188960.
Moreau C, Tremblay F, Wolking S, Girard A, Laprise C, Hamdan FF, Michaud JL, Minassian BA, Cossette P, Girard SL. Assessment of burden and segregation profiles of CNVs in patients with epilepsy. Ann Clin Transl Neurol. 2022 Jul;9(7):1050-1058. doi: 10.1002/acn3.51598. Epub 2022 Jun 8. PMID: 35678011; PMCID: PMC9268881.
Sadak U, Honrath P, Ermis U, Heckelmann J, Meyer T, Weber Y, Wolking S. Reduced REM sleep: a potential biomarker for epilepsy - a retrospective case-control study. Seizure. 2022 May;98:27-33. doi: 10.1016/j.seizure.2022.03.022. Epub 2022 Apr 2. PMID: 35398671.
Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15. PMID: 35032048; PMCID: PMC8891088.
van Lanen RHGJ, Wiggins CJ, Colon AJ, Backes WH, Jansen JFA, Uher D, Drenthen GS, Roebroeck A, Ivanov D, Poser BA, Hoeberigs MC, van Kuijk SMJ, Hoogland G, Rijkers K, Wagner GL, Beckervordersandforth J, Delev D, Clusmann H, Wolking S, Klinkenberg S, Rouhl RPW, Hofman PAM, Schijns OEMG. Value of ultra-high field MRI in patients with suspected focal epilepsy and negative 3 T MRI (EpiUltraStudy): protocol for a prospective, longitudinal therapeutic study. Neuroradiology. 2022 Apr;64(4):753-764. doi: 10.1007/s00234-021-02884-8. Epub 2022 Jan 5. PMID: 34984522; PMCID: PMC8907090.
Boßelmann CM, San Antonio-Arce V, 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. Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers. Seizure. 2022 Feb;95:4-10. doi: 10.1016/j.seizure.2021.12.004. Epub 2021 Dec 17. PMID: 34953286.
2021
Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H; Epi25 Collaborative. Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBioMedicine. 2021 Oct;72:103588. doi: 10.1016/j.ebiom.2021.103588. Epub 2021 Sep 24. PMID: 34571366; PMCID: PMC8479647.
Wolking S, Campbell C, Stapleton C, McCormack M, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Cavalleri GL, Lerche H. Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications. Front Pharmacol. 2021 Jun 9;12:688386. doi: 10.3389/fphar.2021.688386. PMID: 34177598; PMCID: PMC8220970.
Wolking S, Moreau C, McCormack M, Krause R, Krenn M; EpiPGx Consortium; Berkovic S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, O'Brien TJ, Petrovski S, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Sisodiya SM, Girard SL, Cossette P. 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. PMID: 34018700; PMCID: PMC8283173.
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; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. PMID: 34002374; PMCID: PMC8672363.
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. Erratum in: Am J Hum Genet. 2021 Oct 7;108(10):2024. PMID: 33932343; PMCID: PMC8206159.
Zöllner JP, Wolking S, Weber Y, Rosenow F. Decision-support-Systeme, Assistenzsysteme und Telemedizin in der Epileptologie [Decision support systems, assistance systems and telemedicine in epileptology]. Nervenarzt. 2021 Feb;92(2):95-106. German. doi: 10.1007/s00115-020-01031-7. Epub 2020 Nov 27. PMID: 33245402; PMCID: PMC7691952.
2020
Niestroj LM, Perez-Palma E, Howrigan DP, Zhou Y, Cheng F, Saarentaus E, Nürnberg P, Stevelink R, Daly MJ, Palotie A, Lal D; Epi25 Collaborative. Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain. 2020 Jul 1;143(7):2106-2118. doi: 10.1093/brain/awaa171. PMID: 32568404; PMCID: PMC7364765.
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy. Neurobiol Aging. 2020 Aug;92:153.e1-153.e5. doi: 10.1016/j.neurobiolaging.2020.04.011. Epub 2020 Apr 18. PMID: 32409253; PMCID: PMC7818383.
Moreau C, Rébillard RM, Wolking S, Michaud J, Tremblay F, Girard A, Bouchard J, Minassian B, Laprise C, Cossette P, Girard SL. Polygenic risk scores of several subtypes of epilepsies in a founder population. Neurol Genet. 2020 Mar 27;6(3):e416. doi: 10.1212/NXG.0000000000000416. PMID: 32337343; PMCID: PMC7164970.
Wolking S, Schulz H, Nies AT, McCormack M, Schaeffeler E, Auce P, Avbersek A, Becker F, Klein KM, Krenn M, Møller RS, Nikanorova M, Weckhuysen S, Consortium E, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BP, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Weber YG, Krause R, Sisodiya S, Schwab M, Sander T, Lerche H. Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics. 2020 Apr;21(5):325-335. doi: 10.2217/pgs-2019-0179. Epub 2020 Apr 20. PMID: 32308125.
Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Schwab M, Krause R, Sisodiya SM, Cossette P, Girard SL, Lerche H; EpiPGX Consortium. Testing association of rare genetic variants with resistance to three common antiseizure medications. Epilepsia. 2020 Apr;61(4):657-666. doi: 10.1111/epi.16467. Epub 2020 Mar 6. PMID: 32141622.
2019
Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Stefansson H, Striano P, Zara F; EPIGEN Consortium; EpiPGX Consortium; Depondt C, Sisodiya S, Goldstein D, Lerche H, Cavalleri GL, Delanty N. Genomic and clinical predictors of lacosamide response in refractory epilepsies. Epilepsia Open. 2019 Sep 25;4(4):563-571. doi: 10.1002/epi4.12360. PMID: 31819912; PMCID: PMC6885661.
Stevelink R, Pangilinan F, Jansen FE, Braun KPJ; International League Against Epilepsy Consortium on Complex Epilepsies; Molloy AM, Brody LC, Koeleman BPC. Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy. Mol Genet Metab Rep. 2019 Oct 11;21:100518. doi: 10.1016/j.ymgmr.2019.100518. PMID: 31641590; PMCID: PMC6796782.
Leu C, Stevelink R, Smith AW, Goleva SB, Kanai M, Ferguson L, Campbell C, Kamatani Y, Okada Y, Sisodiya SM, Cavalleri GL, Koeleman BPC, Lerche H, Jehi L, Davis LK, Najm IM, Palotie A, Daly MJ, Busch RM; Epi25 Consortium; Lal D. Polygenic burden in focal and generalized epilepsies. Brain. 2019 Nov 1;142(11):3473-3481. doi: 10.1093/brain/awz292. Erratum in: Brain. 2020 Jul 1;143(7):e61. PMID: 31608925; PMCID: PMC6821205.
Willikens S, Wolking S. A case of DRESS (drug reaction with eosinophilia and systemic symptoms) under treatment with eslicarbazepine. Seizure. 2019 Nov;72:11-12. doi: 10.1016/j.seizure.2019.06.027. Epub 2019 Jul 30. PMID: 31541846.
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, Cavalleri GL, Craig J, Delanty N, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, van der Palen J, Krause R, Depondt C, Sisodiya SM; EpiPGX Consortium. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 2019 Jul 4;4(3):420-430. doi: 10.1002/epi4.12349. PMID: 31440723; PMCID: PMC6698679.
Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au; Epi25 Collaborative. 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. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18. PMID: 31327507; PMCID: PMC6698801.
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. PMID: 30995385.
Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium; Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M. A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. PMID: 30868120; PMCID: PMC6398103.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. PMID: 30737342; PMCID: PMC6511102.
2018 - 2009 (Selection)
International League Against Epilepsy Consortium on Complex Epilepsies. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun. 2018 Dec 10;9(1):5269. doi: 10.1038/s41467-018-07524-z. PMID: 30531953; PMCID: PMC6288131.
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium; Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. PMID: 30148849; PMCID: PMC6110470.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, 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 AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. PMID: 30033060.
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Fan C, Wolking S, Lehmann-Horn F, Hedrich UB, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K. Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. Cephalalgia. 2016 Nov;36(13):1238-1247. doi: 10.1177/0333102415608360. Epub 2016 Jul 11. PMID: 26763045; PMCID: PMC5105328.
Wolking S, Schaeffeler E, Lerche H, Schwab M, Nies AT. Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature. Clin Pharmacokinet. 2015 Jul;54(7):709-35. doi: 10.1007/s40262-015-0267-1. PMID: 25860377.
Wolking S, Becker F, Bast T, Wiemer-Kruel A, Mayer T, Lerche H, Weber YG. Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol. 2014 Oct;261(10):1881-6. doi: 10.1007/s00415-014-7433-5. Epub 2014 Jul 15. PMID: 25022942.
Ronellenfitsch MW, Brucker DP, Burger MC, Wolking S, Tritschler F, Rieger J, Wick W, Weller M, Steinbach JP. Antagonism of the mammalian target of rapamycin selectively mediates metabolic effects of epidermal growth factor receptor inhibition and protects human malignant glioma cells from hypoxia-induced cell death. Brain. 2009 Jun;132(Pt 6):1509-22. doi: 10.1093/brain/awp093. Epub 2009 May 4. PMID: 19416948.
