Publikationen

Publikationen aus dem Forschungsverbund

2022

  1. Schwarz N, Seifert S, …, Brünger T, Hedrich UBS, …, Lerche H, …, Lal D, May P, …, Weber Y. Spectrum of phenotypic, genetic, and functional characteristics in epilepsy patients with KCNC2 pathogenic variants, Neurology 2022, in press
  2. Boßelmann CM, Hedrich UBS, …, Lerche H, Pfeifer N. Predicting the functional effects of voltage-gated potassium channel missense mutations. bioRxiv; 2021:470894, under review in eBioMedicine
  3. Seiffert S, …, Schwarz N, van der Ven A, Boßelmann CM, …, Hedrich UBS, Helbig I, Weber Y. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder. bioRxiv; 2021:471090, under review in eBioMedicine
  4. 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; 95: 4-10; IF=3,184 (2020)
  5. 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. Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study. Developmental Medicine and Child Neurology 2022; Epub ahead of print; IF=5,449 (2020)
  6. Kovermann P, Engels M, Müller F, Fahlke C. Cellular Physiology and Pathophysiology of EAAT Anion Channels. Frontiers in Cellular Neuroscience 2022; 15: 815279; IF=5,505 (2020)

2021

  1. Johannesen KM, Liu Y, Gjerulfsen CE, Koko M, 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, Krey I, Heine C,Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, 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, Le NM, Christensen J, Schmidt-Petersen MU, 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, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne M-C, Destrée A, Schoonjans A-S, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan W-H, 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, 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. doi: 10.1093/brain/awab321; IF 11,814, open access.
  2.  Kovermann P, Kolobkova Y, Franzen A, Fahlke C. Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function. Epilepsia 2021; 63(2): 388-401; IF=5,866 (2020)
  3. 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, Group SYS, University of Washington Center for Mendelian G, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. American Journal of Human Genetics 2021; 108(12): 2368-2384; IF=11,025 (2020)
  4. Lauxmann S, Sonnenberg L, Koch NA, Bosselmann C, Winter N, Schwarz N, Wuttke TV, Hedrich UBS, Liu YY, Lerche H, Benda J, Kegele J. Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature. Frontiers in Neurology 2021; 12: 703970; IF=4,003 (2020)
  5. Auffenberg E, Hedrich UBS, Barbieri R, Miely D, Groschup B, Wuttke TV, Vogel N, Lührs P, Zanardi I, Bertelli S, Spielmann N, Gailus-Durner V, Fuchs H, de Angelis MH, Pusch M, Dichgans M, Lerche H, Gavazzo P, Plesnila N, Freilinger T. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model. Journal of Clinical Investigation 2021; 131(21): e142202; IF=14,808 (2020)
  6. Vorderwülbecke BJ, Wandschneider B, Weber Y, Holtkamp M. Genetic generalized epilepsies in adults – challenging assumptions and dogmas. Nature Reviews Neurology 2021; 18(2): 71-83; IF=42,937 (2020)
  7. 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, Marjanovi 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. Science Translational Medicine 2021; 13(609): eaaz4957; IF=17,956 (2020) > R4R – Paper of the Quarter III /2021
  8. Kaczmarek AT, Bahlmann N, Thaqi B, May P, Schwarz G. Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations. Molecular Genetics and Metabolism 2021; 134(1-2): 188-194; IF=4,797 (2020)
  9. Lerche H, Präzisionsmedizin in der Epileptologie – wie weit sind wir wirklich? Editorial. Zeitschrift für Epileptologie 2021;34:133-135
  10. Kegele J, Krüger J, Koko M, Lange L, Hernandez AVM, Martinez F, Münchau A, Lerche H, Lauxmann S. Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders. Frontiers in Neurology 2021; 12: 701351; IF=4,003 (2020)
  11. Amanat S, Gallego-Martinez A, Sollini J, Perez-Carpena P, Espinosa-Sanchez JM, Aran I, Soto-Varela A, Batuecas-Caletrio A, Canlon B, May P, Cederroth CR, Lopez-Escamez JA. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine 2021; 66: 103309; IF=8,143 (2020)

2020

  1. Schuster S, Heuten E, Velic A, Admard J, Synofzik M, Ossowski S, Macek B, Hauser S, Schöls L. CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons. Disease Models & Mechanisms 2020; 13(10): dmm045096; IF=5,758 > Cooperation with Treat-HSP
  2. Lerche H. Drug-resistant epilepsy – time to target mechanisms. Nature Reviews Neurology 2020 Nov;16(11):595-596. doi: 10.1038/s41582-020-00419-y
  3. Chivukula AS, Suslova M, Kortzak D, Kovermann P, Fahlke C. Functional consequences of SLC1A3 mutations associated with episodic ataxia 6. Human Mutation 2020; 41(11): 1892-1905; IF=4,878
  4. Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P, Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ, Collaborative E. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine 2020; 12(556): eaay6848; IF=17,956
  5. 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, Maljevic S. In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment. Stem Cell Reports 2020; 15(1): 22-37; IF=7,765
  6. Iqbal S, Hoksza D, Pérez-Palma E, May P, Jespersen JB, Ahmed SS, Rifat ZT, Heyne HO, Rahman MS, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. Nucleic Acids Research 2020; 48(W1): W132-W139; IF=16,971
  7. Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du JL, Marini C, Ware JS, Kurki M, Gormley P, Tang S, Wu ST, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ, Consortium E-R. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Medicine 2020; 12(1): 28; IF=11,117
  8. Kovermann P, Untiet V, Kolobkova Y, Engels M, Baader S, Schilling K, Fahlke C. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain Communications 2020; 2(1): fcaa022; no IF available
  9. Allen NM, Weckhuysen S, Gorman K, King MD, Lerche H. Genetic potassium channel-associated epilepsies: Clinical review of the K-v family. European Journal of Paediatric Neurology 2020; 24: 105-116; IF=3,140

2019

  1. Bialer M, Cross H, Hedrich UBS, Lagae L, Lerche H, Loddenkemper T. Novel treatment approaches and pediatric research networks in status epilepticus. Epilepsy & Behavior 2019; 101((Pt B)): 106564; IF=2,508
  2. Uysal B, Löffler H, Rosa F, Lerche H, Schwarz N. Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation. Stem Cell Research 2019; 40: 101543; IF=4,489
  3. Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Annals of Clinical and Translational Neurology 2019; 6(7): 1319-1326; IF=3,66
  4. Schwarz N, Uysal B, Rosa F, Löffler H, Mau-Holzmann UA, Liebau S, Lerche H. Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation. Stem Cell Research 2019; 37: 101445; IF=4,489

Weitere Publikationen

  1. Koko M, Krause R, Bobbili DR, Sander T, Nothnagel M, Epi25 Collaborative, May P, Lerche H.  Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EbioMedicine 2021 Sep 24;72:103588. doi: 10.1016/j.ebiom.2021.103588; IF 8.143, open access
  2. Krüger J, Schubert J, Kegele J, Labalme A, Heighway J, Mao M, Seebohm G Yan P, Koko K, Aslan K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H. Loss-of-function variants in the KCNQ5 gene cause genetic generalized epilepsies. medRxiv 21255696, April 20, 2021. doi: 10.1101/2021.04.20.21255696

Stand: Februar 2022