Publications

Selected Publication:

  1. Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustin 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, Taneles 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;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660
  2. Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine. 2022 Sep;83:104234. doi: 10.1016/j.ebiom.2022.104234.
  3. Vorderwülbecke BJ, Wandschneider B, Weber Y, Holtkamp M. Genetic generalized epilepsies in adults - challenging assumptions and dogmas. Nat Rev Neurol. 2022 Feb;18(2):71-83. doi: 10.1038/s41582-021-00583-9.
  4. Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. J Hum Genet. 2021 Oct 7;108(10):2024. doi: 10.1016/j.ajhg.2021.08.008
  5. Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network; Thomas RH, Krause R, Weber Y, Helbig I. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.  Am J Hum Genet. 2020 Oct 1;107(4):683-697. doi: 10.1016/j.ajhg.2020.08.00
  6. Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber Y; EuroEPINOMICS-RES Consortium; GRIN Consortium. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001
  7. Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium; Poduri A, Weber Y, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25
  8. Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, 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 SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber Y. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580.
  9. 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 Y*, Lerche H*. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. *contributed equally
  10. Weber Y, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H.. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.  J Clin Invest. 2008 Jun;118(6):2157-68. doi: 10.1172/JCI34438

 

Further Publications:

  1. Lerche H, Weber Y (2018 and 2023). Anfallsartige Erkrankungen. S.75-102. In: Sitzer M und Steinmetz H. Lehrbuch Neurologie hoch 2. Urban und Fischer Verlag
  2. Krey I, Platzer K, Esterhuizen A, Berkovic SF, Helbig I, Hildebrand MS, Lerche H, Lowenstein D, Møller RS, Poduri A, Sadleir L, Sisodiya SM, Weckhuysen S, Wilmshurst JM, Lemke JR, Berkovic SF, Cross JH, Helbig I, Lerche H, Lowenstein D, Mefford HC, Perucca P, Tan NC, Caglayan H, Helbig K, Singh G, Weber Y, Weckhuysen S. Current practice in diagnostic genetic testing of the epilepsies. Epileptic Disord. 2022 Oct 1;24(5):765-786. doi: 10.1684/epd.2022.144
  3. 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
  4. Koch H, Weber Y. The glucose transporter type 1 (Glut1) syndromes.Epilepsy Behav. 2018. S1525-5050(18)30348-2.
  5. Weber Y, Biskup S, Helbig KL, Von Spiczak S, Lerche H. The role of genetic testing in epilepsy diagnosis and management.Expert Rev Mol Diagn 2017, 17:739-750.
  6. Wolking S, Weber Y. Genetics of epileptic encephalopathies. Aktuelle Neurologie 2015, 42:437-481.
  7. Weber Y, Nies AT, Schwab M, Lerche H. Genetic Biomarkers in Epilepsy.Neurotherapeutics 2014, 11:324-33.
  8. Lerche H, Vezzani A, Beck H, Blümcke I, Weber Y, Elger C. New developments in epileptogenesis and therapeutic perspectives. Nervenarzt 2011, 82:978-85.
  9. Weber Y, Lerche H. Genetics of paroxysmal dyskinesias. Curr Neurol Neurosci Rep 2009, 9:206-11.
  10. Weber Y, Lerche H (2008). Genetic mechanism in epilepsy. Developmental Medicine and Child Neurology 2008, 50:648-54.