Neurologie mit Schwerpunkt Epileptologie

Komplette Publikationsliste:
Holger Lerche (https://orcid.org/0000-0002-1783-8710)

Ausgewählte Publikationen 2022

Boßelmann CM, Hedrich UBS, Müller P, Sonnenberg L, Parthasarathy S, Helbig I, Lerche H, Pfeifer N. Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
EBioMedicine. 2022 Jun 24;81:104115. (https://doi.org/10.1016/j.ebiom.2022.104115)

Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology. 2022 May 17;98(20):e2046-e2059. (https://doi.org/10.1212/wnl.0000000000200660)

Ausgewählte Publikationen 2021

Auffenberg E, Hedrich UB, Barbieri R, Miely D, Groschup B, Wuttke TV, Vogel N, Lührs P, Zanardi I, Bertelli S, Spielmann N, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Pusch M, Dichgans M, Lerche H, Gavazzo P, Plesnila N, Freilinger T. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.
J Clin Invest. 2021 Nov 1;131(21):e142202 (https://doi.org/10.1172/jci142202)

Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Sci Transl Med. 2021 Sep;13(609):eaaz4957. (https://doi.org/10.1126/scitranslmed.aaz4957)

Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain. 2021 Aug 25:awab321. (https://doi.org/10.1093/brain/awab321)

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.
Lancet EBioMedicine 2021a;72: 103588 (https://doi.org/10.1016/j.ebiom.2021.103588)

Marquetand J, Middelmann T, Dax J, Baek S, Sometti D, Grimm A, Lerche H, Martin P, Kronlage C, Siegel M, Braun C, Broser P. Optically pumped magnetometers reveal fasciculations non-invasively.
Clin Neurophysiol 2021;132:2681-2684

Ausgewählte Publikationen 2020

Rosa F, Dhingra A, Uysal B, Mendis GDC, Loeffler H, Elsen G, Mueller S, Schwarz N, Castillo-Lizardo M, Cuddy C, Becker F, Heutink P, Reid CA, Petrou S, Lerche H, MaljevicS. In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment. Stem Cell Reports. 2020 Jul 14;15(1):22-37. (https://doi.org/10.1016/j.stemcr.2020.05.015)

Ausgewählte Publikationen 2019

Liu Y, Schubert J, Sonnenberg L, Helbig KL, Hoei-Hansen CE, Koko M, Rannap M, Lauxmann S, Huq M, Schneider MC, Johannesen KM, Kurlemann G, Gardella E, Becker F, Weber YG, Benda J, Møller RS, Lerche H. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain. 2019 Feb 1;142(2):376-390. (https://doi.org/10.1093/brain/awy326)

Schwarz N, Uysal B, Welzer M, Bahr JC, Layer N, Löffler H, Stanaitis K, Pa H, Weber YG, Hedrich UB, Honegger JB, Skodras A, Becker AJ, Wuttke TV, Koch H. Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease.
Elife. 2019 Sep 9;8:e48417 (https://doi.org/10.7554/elife.48417)

Kotikalapudi R, Martin P, Erb M, Scheffler K, MarquetandJ, Bender B, Focke NK. MP2RAGE multispectral voxel-based morphometry in focal epilepsy.
Hum Brain Mapp 2019;40:5042-5055

Ausgewählte Publikationen 2018

Abou-Khalil B, Auce P, Avbersek A, Bahlo M, Balding DJ, Bast T, Baum L, Becker AJ, Becker F, Berghuis B, 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, Kalviainen R, Kantanen A-M, Kasperaviciute 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, Lehesjoki A-E, 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, Moller RS, Molloy AM, Muhle H, Newton M, Ng P-W, Noethen MM, Nuernberg 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, von Spiczak S, Walley NM, Weber YG, Wei Z, Weisenberg J, Whelan CD, Widdess-Walsh P, Wolff M, Wolking S, Yang W, Zara F, Zimprich F, Int League Against Epilepsy C (2018) Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
Nature Communications 9:5269 (https://doi.org/10.1038/s41467-018-07524-z)

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet. 2018 Nov 1;103(5):666-678 (https://doi.org/10.1016/j.ajhg.2018.09.006)

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. (https://doi.org/10.1016/s1474-4422(18)30215-1)

Schubert V, Auffenberg E, Biskup S, JurkatRott K, Freilinger T. Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L.
Cephalalgia 2018;38:1503-1508 (https://doi.org/10.1177/0333102417742365)

Wuttke TV, Markopoulos F, Padmanabhan H, Wheeler AP, Murthy VN, Macklis JD. Developmentally primed cortical neurons maintain fidelity of differentiation and establish appropriate functional connectivity after transplantation.
Nat Neurosci. 2018 (https://doi.org/10.1038/s41593-018-0098-0)

Ausgewählte Publikationen 2017

Martin P, Winston GP, Bartlett P, de Tisi J, Duncan JS, Focke NK. Voxel-based magnetic resonance image postprocessing in epilepsy.
Epilepsia. 2017 Sep;58(9):1653-1664 (https://doi.org/10.1111/epi.13851)

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain. 2017 Sep 1;140(9):2337-2354. (https://doi.org/10.1093/brain/awx184)

Schwarz N, Hedrich UBS, Schwarz H, Harshad P.A., Dammeier N, Auffenberg E, Bedogni F, Honegger JB, Lerche H, Wuttke TV, Koch H. Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures.
Scientific Reports 2017;7:12249. (https://doi.org/10.1038/s41598-017-12527-9)

Ausgewählte Publikationen 2016

Fan CX, Wolking S, Lehmann-Horn F, Hedrich UBS, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Cephalalgia 2016; 36: 1238-47 (https://doi.org/10.1177%2F0333102415608360)

Gardella, E., Becker, F., Møller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H.G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S.E., Dibbens, L.M., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. and Weber, Y.G. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Ann Neurol. 2016; 79: 428-436. (https://doi.org/10.1002/ana.24580)

Grimm A, Rasenack M, Athanasopoulou IM, Dammeier NM, Lipski C, Wolking S, Vittore D, Decard BF, Axer H The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.
Journal of Neurology 2016; 263:221-30 (https://doi.org/10.1007/s00415-015-7953-7)

Ausgewählte Publikationen 2015

Klamer S, Rona S, Elshahabi A, Lerche H, Braun C, Honegger J, Erb M, Focke NK. Multimodal effective connectivity analysis reveals seizure focus and propagation in musicogenic epilepsy.
Neuroimage 2015; 113:70-7 (https://doi.org/10.1016/j.neuroimage.2015.03.027)

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nat Genet 2015;47:39-46. (https://doi.org/10.1038/ng.3144)

Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya  SM, Weckhuysen S, Lerche H, Lemke JR. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Nat Genet 2015;47:393-9. (https://doi.org/10.1038/ng.3239)

Ausgewählte Publikationen 2014

International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
Lancet Neurol 2014;13:893-903. (https://doi.org/10.1016/s1474-4422(14)70171-1)

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Nat Genet 2014;46:1327-32. (https://doi.org/10.1038/ng.3130)