| Year |
Citation |
Score |
| 2024 |
Khan A, Muhammad A, Ullah H, Ambreen H, Ullah A, May P, Lerche H, Haack TB, Rehman SU, Kegele J. Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1. Clinical Genetics. PMID 39400946 DOI: 10.1111/cge.14627 |
0.342 |
|
| 2024 |
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B, Gunning B, Hardies K, Jennesson M, ... ... Lerche H, et al. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect. American Journal of Human Genetics. PMID 38744284 DOI: 10.1016/j.ajhg.2024.04.014 |
0.434 |
|
| 2024 |
Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1870: 167127. PMID 38519006 DOI: 10.1016/j.bbadis.2024.167127 |
0.323 |
|
| 2024 |
Krüger J, Lerche H. Retigabine and gabapentin restore channel function and neuronal firing in a cellular model of an epilepsy-associated dominant-negative KCNQ5 variant. Neuropharmacology. 250: 109892. PMID 38428481 DOI: 10.1016/j.neuropharm.2024.109892 |
0.317 |
|
| 2024 |
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, ... ... Lerche H, et al. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy. European Journal of Human Genetics : Ejhg. PMID 38316952 DOI: 10.1038/s41431-024-01541-x |
0.432 |
|
| 2024 |
Kegele J, Wagner T, Kowenski T, Wiesmayr M, Gatterer C, Alber M, Matuja W, Schmutzhard E, Lerche H, Winkler AS. Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome. Journal of the Neurological Sciences. 457: 122893. PMID 38278097 DOI: 10.1016/j.jns.2024.122893 |
0.404 |
|
| 2023 |
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, ... ... Lerche H, et al. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia. Ebiomedicine. 98: 104855. PMID 38251463 DOI: 10.1016/j.ebiom.2023.104855 |
0.421 |
|
| 2023 |
Kreilkamp BAK, Stier C, Rauf EH, Martin P, Ethofer S, Lerche H, Kotikalapudi R, Marquetand J, Dechent P, Focke NK. Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes. Neuroimage. Clinical. 39: 103474. PMID 37441820 DOI: 10.1016/j.nicl.2023.103474 |
0.464 |
|
| 2023 |
Knierim E, Vogt J, Kintscher M, Ponomarenko A, Baumgart J, Beed P, Korotkova T, Trimbuch T, Panzer A, Steinlein OK, Stephani U, Escayg A, Koko M, Liu Y, Lerche H, et al. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype. Cerebral Cortex (New York, N.Y. : 1991). PMID 36977636 DOI: 10.1093/cercor/bhad051 |
0.43 |
|
| 2023 |
Müller P, Takacs DS, Hedrich UBS, Coorg R, Masters L, Glinton KE, Dai H, Cokley JA, Riviello JJ, Lerche H, Cooper EC. KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Annals of Clinical and Translational Neurology. PMID 36793218 DOI: 10.1002/acn3.51742 |
0.516 |
|
| 2023 |
Müller P, Lerche H. [Gene Therapy for Epilepsy: Clinical Studies are on the Road]. Fortschritte Der Neurologie-Psychiatrie. PMID 36716773 DOI: 10.1055/a-1995-5405 |
0.36 |
|
| 2023 |
Kühne F, Becker LL, Bast T, Bertsche A, Borggraefe I, Boßelmann CM, Fahrbach J, Hertzberg C, Herz NA, Hirsch M, Holtkamp M, Janello C, Kluger GJ, Kurlemann G, Lerche H, et al. Real world data on cannabidiol treatment of various epilepsy subtypes: a retrospective, multicenter study. Epilepsia Open. PMID 36693811 DOI: 10.1002/epi4.12699 |
0.439 |
|
| 2022 |
Bayraktar E, Liu Y, Sonnenberg L, Hedrich UBS, Sara Y, Eltokhi A, Lyu H, Lerche H, Wuttke TV, Lauxmann S. In vitro effects of S-Licarbazepine as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders. British Journal of Pharmacology. PMID 36321697 DOI: 10.1111/bph.15981 |
0.561 |
|
| 2022 |
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, ... ... Lerche H, et al. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. Ebiomedicine. 84: 104244. PMID 36088682 DOI: 10.1016/j.ebiom.2022.104244 |
0.459 |
|
| 2022 |
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, ... ... Lerche H, et al. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35986737 DOI: 10.1016/j.gim.2022.07.006 |
0.304 |
|
| 2022 |
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, ... ... Lerche H, et al. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology. 99: e221-e233. PMID 35851549 DOI: 10.1212/WNL.0000000000200715 |
0.455 |
|
| 2022 |
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, Weber Y, et al. Current practice in diagnostic genetic testing of the epilepsies Epileptic Disorders : International Epilepsy Journal With Videotape. 24: 1-22. PMID 35830287 DOI: 10.1684/epd.2022.1448 |
0.336 |
|
| 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. 81: 104115. PMID 35759918 DOI: 10.1016/j.ebiom.2022.104115 |
0.368 |
|
| 2022 |
Knowles JK, Helbig I, Metcalf CS, Lubbers LS, Isom LL, Demarest S, Goldberg E, George AL, Lerche H, Weckhuysen S, Whittemore V, Berkovic SF, Lowenstein DH. Precision medicine for genetic epilepsy on the horizon: recent advances, present challenges and suggestions for continued progress. Epilepsia. PMID 35716052 DOI: 10.1111/epi.17332 |
0.437 |
|
| 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, Michaud JL, Hamdan FF, ... ... Lerche H, et al. The role of common genetic variation in presumed monogenic epilepsies. Ebiomedicine. 81: 104098. PMID 35679801 DOI: 10.1016/j.ebiom.2022.104098 |
0.465 |
|
| 2022 |
Adesoji OM, Schulz H, May P, Krause R, Lerche H, Nothnagel M. Benchmarking of univariate pleiotropy detection methods applied to epilepsy. Human Mutation. PMID 35620985 DOI: 10.1002/humu.24417 |
0.388 |
|
| 2022 |
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Alam CA, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, ... ... Lerche H, et al. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. PMID 35616059 DOI: 10.1111/cge.14165 |
0.405 |
|
| 2022 |
Stier C, Loose M, Kotikalapudi R, Elshahabi A, Li Hegner Y, Marquetand J, Braun C, Lerche H, Focke NK. Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings. Epilepsia. PMID 35416282 DOI: 10.1111/epi.17258 |
0.305 |
|
| 2022 |
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brà Nger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, ... ... Lerche H, et al. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants. Neurology. PMID 35314505 DOI: 10.1212/WNL.0000000000200660 |
0.368 |
|
| 2021 |
Liu Y, Koko M, Lerche H. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function? Epilepsy Research. 178: 106824. PMID 34847423 DOI: 10.1016/j.eplepsyres.2021.106824 |
0.393 |
|
| 2021 |
Egger-Rainer A, Hettegger SM, Feldner R, Arnold S, Bosselmann C, Hamer H, Hengsberger A, Lang J, Lorenzl S, Lerche H, Noachtar S, Pataraia E, Schulze-Bonhage A, Staack AM, Trinka E, et al. Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis. Journal of Advanced Nursing. PMID 34837405 DOI: 10.1111/jan.15105 |
0.35 |
|
| 2021 |
Layer N, Sonnenberg L, Pardo González E, Benda J, Hedrich UBS, Lerche H, Koch H, Wuttke TV. Dravet Variant Impairs Interneuron Firing Predominantly by Altered Channel Activation. Frontiers in Cellular Neuroscience. 15: 754530. PMID 34776868 DOI: 10.3389/fncel.2021.754530 |
0.31 |
|
| 2021 |
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, ... ... Lerche H, et al. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain : a Journal of Neurology. PMID 34633442 DOI: 10.1093/brain/awab391 |
0.451 |
|
| 2021 |
Koko M, Krause R, Sander T, Bobbili DR, Nothnagel M, May P, Lerche H. Distinct gene-set burden patterns underlie common generalized and focal epilepsies. Ebiomedicine. 72: 103588. PMID 34571366 DOI: 10.1016/j.ebiom.2021.103588 |
0.335 |
|
| 2021 |
Lauxmann S, Sonnenberg L, Koch NA, Bosselmann C, Winter N, Schwarz N, Wuttke TV, Hedrich UBS, Liu Y, Lerche H, Benda J, Kegele J. Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in -Associated Episodic Ataxia and a Comprehensive Review of the Literature. Frontiers in Neurology. 12: 703970. PMID 34566847 DOI: 10.3389/fneur.2021.703970 |
0.408 |
|
| 2021 |
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, ... ... Lerche H, et al. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain : a Journal of Neurology. PMID 34431999 DOI: 10.1093/brain/awab321 |
0.574 |
|
| 2021 |
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, et al. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Human Molecular Genetics. PMID 34245260 DOI: 10.1093/hmg/ddab192 |
0.349 |
|
| 2021 |
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, ... ... Lerche H, et al. Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications. Frontiers in Pharmacology. 12: 688386. PMID 34177598 DOI: 10.3389/fphar.2021.688386 |
0.399 |
|
| 2021 |
Wolking S, Moreau C, McCormack M, Krause R, Krenn M, Berkovic S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Lerche H, Marson AG, et al. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Annals of Clinical and Translational Neurology. PMID 34018700 DOI: 10.1002/acn3.51374 |
0.33 |
|
| 2021 |
Balestrini S, Chiarello D, Gogou M, Silvennoinen K, Puvirajasinghe C, Jones WD, Reif P, Klein KM, Rosenow F, Weber YG, Lerche H, Schubert-Bast S, Borggraefe I, Coppola A, Troisi S, et al. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 33903184 DOI: 10.1136/jnnp-2020-325932 |
0.444 |
|
| 2020 |
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, et al. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine. 12. PMID 32801145 DOI: 10.1126/Scitranslmed.Aay6848 |
0.321 |
|
| 2020 |
Vardar G, Gerth F, Schmitt XJ, Rautenstrauch P, Trimbuch T, Schubert J, Lerche H, Rosenmund C, Freund C. Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons. Brain : a Journal of Neurology. PMID 32572454 DOI: 10.1093/brain/awaa151 |
0.361 |
|
| 2020 |
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, ... ... Lerche H, et al. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain : a Journal of Neurology. PMID 32282878 DOI: 10.1093/brain/awaa085 |
0.454 |
|
| 2020 |
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. PMID 32090326 DOI: 10.1111/Epi.16438 |
0.479 |
|
| 2019 |
Allen NM, Weckhuysen S, Gorman K, King MD, Lerche H. Genetic potassium channel-associated epilepsies: Clinical review of the K family. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 31932120 DOI: 10.1016/j.ejpn.2019.12.002 |
0.397 |
|
| 2019 |
Hedrich UBS, Lauxmann S, Lerche H. SCN2A channelopathies: Mechanisms and models. Epilepsia. 60: S68-S76. PMID 31904120 DOI: 10.1111/epi.14731 |
0.533 |
|
| 2019 |
Bialer M, Cross H, Hedrich UBS, Lagae L, Lerche H, Loddenkemper T. Novel treatment approaches and pediatric research networks in status epilepticus. Epilepsy & Behavior : E&B. 106564. PMID 31708430 DOI: 10.1016/j.yebeh.2019.106564 |
0.452 |
|
| 2019 |
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, et al. Polygenic burden in focal and generalized epilepsies. Brain : a Journal of Neurology. PMID 31608925 DOI: 10.1093/Brain/Awz292 |
0.455 |
|
| 2019 |
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, ... ... Lerche H, et al. Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy. Epilepsia Open. 4: 420-430. PMID 31440723 DOI: 10.1002/epi4.12349 |
0.341 |
|
| 2019 |
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, ... ... Lerche H, et al. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Annals of Clinical and Translational Neurology. 6: 1319-1326. PMID 31353862 DOI: 10.1002/acn3.50799 |
0.473 |
|
| 2019 |
Hedrich UBS, Koch H, Becker A, Lerche H. [Epileptogenesis and consequences for treatment]. Der Nervenarzt. PMID 31243507 DOI: 10.1007/s00115-019-0749-8 |
0.528 |
|
| 2019 |
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31056551 DOI: 10.1038/S41436-019-0531-0 |
0.393 |
|
| 2019 |
Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, ... ... Lerche H, et al. 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. PMID 30868120 DOI: 10.1002/epi4.12297 |
0.343 |
|
| 2019 |
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, ... ... Lerche H, et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal of Human Genetics. 104: 562. PMID 30849329 DOI: 10.1016/j.ajhg.2019.02.015 |
0.339 |
|
| 2019 |
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, ... ... Lerche H, et al. Clinical spectrum of -related epileptic disorders. Neurology. PMID 30737342 DOI: 10.1212/Wnl.0000000000007089 |
0.374 |
|
| 2019 |
Maljevic S, Møller RS, Reid CA, Pérez-Palma E, Lal D, May P, Lerche H. Spectrum of GABAA receptor variants in epilepsy. Current Opinion in Neurology. PMID 30664068 DOI: 10.1097/WCO.0000000000000657 |
0.339 |
|
| 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, ... ... Lerche H, et al. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain : a Journal of Neurology. PMID 30615093 DOI: 10.1093/brain/awy326 |
0.413 |
|
| 2018 |
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, ... ... Lerche H, et al. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal of Human Genetics. PMID 30343943 DOI: 10.1016/j.ajhg.2018.09.006 |
0.483 |
|
| 2018 |
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, ... ... Lerche H, et al. Rare gene deletions in genetic generalized and Rolandic epilepsies. Plos One. 13: e0202022. PMID 30148849 DOI: 10.1371/Journal.Pone.0202022 |
0.472 |
|
| 2018 |
Lauxmann S, Verbeek NE, Liu Y, Zaichuk M, Müller S, Lemke JR, van Kempen MJA, Lerche H, Hedrich UBS. Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Human Mutation. PMID 30144217 DOI: 10.1002/humu.23619 |
0.495 |
|
| 2018 |
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, ... ... Lerche H, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. The Lancet. Neurology. 17: 699-708. PMID 30033060 DOI: 10.1016/S1474-4422(18)30215-1 |
0.398 |
|
| 2018 |
Li Hegner Y, Marquetand J, Elshahabi A, Klamer S, Lerche H, Braun C, Focke NK. Increased Functional MEG Connectivity as a Hallmark of MRI-Negative Focal and Generalized Epilepsy. Brain Topography. PMID 29766384 DOI: 10.1007/s10548-018-0649-4 |
0.473 |
|
| 2018 |
Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, ... ... Lerche H, et al. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. European Journal of Human Genetics : Ejhg. PMID 29358611 DOI: 10.1038/S41431-017-0034-X |
0.424 |
|
| 2017 |
Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S. Functional variants inandmay contribute to genetic generalized epilepsy. Epilepsia Open. 2: 334-342. PMID 29588962 DOI: 10.1002/epi4.12068 |
0.465 |
|
| 2017 |
Marquetand J, Knake S, Strzelczyk A, Steinhoff BJ, Lerche H, Synofzik M, Focke NK. Periodic EEG patterns in sporadic Creutzfeld-Jakob-Disease can be benzodiazepine-responsive and be difficult to distinguish from non-convulsive status epilepticus. Seizure. 53: 47-50. PMID 29125945 DOI: 10.1016/j.seizure.2017.10.023 |
0.421 |
|
| 2017 |
Stefanou MI, Desideri D, Marquetand J, Belardinelli P, Zrenner C, Lerche H, Ziemann U. Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. 128: 2503-2509. PMID 29101845 DOI: 10.1016/J.Clinph.2017.10.008 |
0.454 |
|
| 2017 |
Blumcke I, Spreafico R, Haaker G, Coras R, Kobow K, Bien CG, Pfäfflin M, Elger C, Widman G, Schramm J, Becker A, Braun KP, Leijten F, Baayen JC, Aronica E, ... ... Lerche H, et al. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. The New England Journal of Medicine. 377: 1648-1656. PMID 29069555 DOI: 10.1056/Nejmoa1703784 |
0.361 |
|
| 2017 |
Li M, Maljevic S, Phillips AM, Petrovski S, Hildebrand M, Burgess R, Mount T, Zara F, Striano P, Schubert J, Thiele H, Nürnberg P, Wong M, Weisenberg JL, Thio LL, ... Lerche H, et al. Gain-of-function HCN2 variants in genetic epilepsy. Human Mutation. PMID 29064616 DOI: 10.1002/humu.23357 |
0.512 |
|
| 2017 |
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, ... ... Lerche H, et al. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain : a Journal of Neurology. PMID 29053855 DOI: 10.1093/Brain/Awx236 |
0.439 |
|
| 2017 |
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, ... ... Lerche H, et al. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain : a Journal of Neurology. 140: 2337-2354. PMID 29050392 DOI: 10.1093/Brain/Awx184 |
0.379 |
|
| 2017 |
Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, Schubert J, Iacomino M, Zara F, Lerche H, Moyanova S, Ngomba RT, van Luijtelaar G, et al. Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies. Epilepsia. PMID 28913875 DOI: 10.1111/Epi.13898 |
0.443 |
|
| 2017 |
Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, ... ... Lerche H, et al. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia. PMID 28857179 DOI: 10.1111/Epi.13871 |
0.39 |
|
| 2017 |
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, ... ... Lerche H, et al. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. Journal of Medical Genetics. PMID 28756411 DOI: 10.1136/Jmedgenet-2016-104495 |
0.466 |
|
| 2017 |
Lösing P, Niturad CE, Harrer M, Reckendorf CMZ, Schatz T, Sinske D, Lerche H, Maljevic S, Knöll B. SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model. Molecular Brain. 10: 30. PMID 28716058 DOI: 10.1186/s13041-017-0310-2 |
0.432 |
|
| 2017 |
Weber YG, Biskup S, Helbig KL, Von Spiczak S, Lerche H. The role of genetic testing in epilepsy diagnosis and management. Expert Review of Molecular Diagnostics. 17: 739-750. PMID 28548558 DOI: 10.1080/14737159.2017.1335598 |
0.441 |
|
| 2017 |
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn A, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, ... ... Lerche H, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. Annals of Neurology. PMID 28380698 DOI: 10.1002/ana.24929 |
0.383 |
|
| 2017 |
Wolff M, Johannesen KM, Hedrich UB, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, ... ... Lerche H, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain : a Journal of Neurology. PMID 28379373 DOI: 10.1093/Brain/Awx054 |
0.572 |
|
| 2017 |
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, ... ... Lerche H, et al. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology. PMID 28053010 DOI: 10.1212/WNL.0000000000003565 |
0.446 |
|
| 2016 |
Maljevic S, Vejzovic S, Bernhard MK, Bertsche A, Weise S, Döcker M, Lerche H, Lemke JR, Merkenschlager A, Syrbe S. Novel Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures. Molecular Syndromology. 7: 189-196. PMID 27781029 DOI: 10.1159/000447461 |
0.481 |
|
| 2016 |
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, et al. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology. PMID 27733563 DOI: 10.1212/WNL.0000000000003309 |
0.476 |
|
| 2016 |
Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, ... ... Lerche H, et al. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. PMID 27521439 DOI: 10.1212/Wnl.0000000000003087 |
0.406 |
|
| 2016 |
Johannesen KM, Miranda MJ, Lerche H, Møller RS. Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val. Journal of Neurology. PMID 27159988 DOI: 10.1007/s00415-016-8149-5 |
0.492 |
|
| 2016 |
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, ... ... Lerche H, et al. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. Plos One. 11: e0150426. PMID 26990884 DOI: 10.1371/Journal.Pone.0150426 |
0.52 |
|
| 2016 |
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 : An International Journal of Headache. PMID 26763045 DOI: 10.1177/0333102415608360 |
0.338 |
|
| 2015 |
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, ... ... Lerche H, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Annals of Neurology. PMID 26677014 DOI: 10.1002/ana.24580 |
0.433 |
|
| 2015 |
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, ... ... Lerche H, et al. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain : a Journal of Neurology. 138: 3238-50. PMID 26384929 DOI: 10.1093/Brain/Awv263 |
0.338 |
|
| 2015 |
Lal D, Steinbrücker S, Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R, Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, et al. Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Research. 115: 95-9. PMID 26220384 DOI: 10.1016/J.Eplepsyres.2015.05.010 |
0.474 |
|
| 2015 |
Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, et al. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia. 56: e129-e133. PMID 26174448 DOI: 10.1111/epi.13076 |
0.529 |
|
| 2015 |
Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn-Merker E, Hofmann-Peters A, Sperner J, Cross H, Hallmann K, Elger CE, Kunz WS, Madeleyen R, Lerche H, Weber YG. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? Epilepsy Research. 114: 47-51. PMID 26088884 DOI: 10.1016/J.Eplepsyres.2015.04.012 |
0.351 |
|
| 2015 |
Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. Plos Genetics. 11: e1005226. PMID 25950944 DOI: 10.1371/Journal.Pgen.1005226 |
0.403 |
|
| 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. 113: 70-7. PMID 25797835 DOI: 10.1016/j.neuroimage.2015.03.027 |
0.467 |
|
| 2015 |
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, ... ... Lerche H, et al. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain : a Journal of Neurology. 138: 1198-207. PMID 25783594 DOI: 10.1093/Brain/Awv052 |
0.556 |
|
| 2015 |
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, ... ... Lerche H, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genetics. 47: 393-9. PMID 25751627 DOI: 10.1038/Ng.3239 |
0.462 |
|
| 2015 |
Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, ... ... Lerche H, et al. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Annals of Neurology. 77: 972-86. PMID 25726841 DOI: 10.1002/Ana.24395 |
0.339 |
|
| 2015 |
Lerche H. New hope for the treatment of epilepsy. Brain : a Journal of Neurology. 138: 240-2. PMID 25627234 DOI: 10.1093/brain/awu357 |
0.382 |
|
| 2015 |
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, ... ... Lerche H, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics. 47: 39-46. PMID 25401298 DOI: 10.1038/Ng.3144 |
0.3 |
|
| 2015 |
Maljevic S, Lerche H. Potassium channel genes and benign familial neonatal epilepsy. Progress in Brain Research. 213: 17-53. PMID 25194482 DOI: 10.1016/B978-0-444-63326-2.00002-8 |
0.502 |
|
| 2014 |
Hedrich UB, Liautard C, Kirschenbaum D, Pofahl M, Lavigne J, Liu Y, Theiss S, Slotta J, Escayg A, Dihné M, Beck H, Mantegazza M, Lerche H. Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 14874-89. PMID 25378155 DOI: 10.1523/Jneurosci.0721-14.2014 |
0.382 |
|
| 2014 |
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, ... ... Lerche H, et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genetics. 46: 1327-32. PMID 25362483 DOI: 10.1038/Ng.3130 |
0.48 |
|
| 2014 |
Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 83: 2183-7. PMID 25361775 DOI: 10.1212/Wnl.0000000000001055 |
0.464 |
|
| 2014 |
Challal S, Buenafe OE, Queiroz EF, Maljevic S, Marcourt L, Bock M, Kloeti W, Dayrit FM, Harvey AL, Lerche H, Esguerra CV, de Witte PA, Wolfender JL, Crawford AD. Zebrafish bioassay-guided microfractionation identifies anticonvulsant steroid glycosides from the Philippine medicinal plant Solanum torvum. Acs Chemical Neuroscience. 5: 993-1004. PMID 25127088 DOI: 10.1021/Cn5001342 |
0.4 |
|
| 2014 |
Focke NK, Diederich C, Helms G, Nitsche MA, Lerche H, Paulus W. Idiopathic-generalized epilepsy shows profound white matter diffusion-tensor imaging alterations. Human Brain Mapping. 35: 3332-42. PMID 25050427 DOI: 10.1002/Hbm.22405 |
0.322 |
|
| 2014 |
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. Journal of Neurology. 261: 1881-6. PMID 25022942 DOI: 10.1007/s00415-014-7433-5 |
0.551 |
|
| 2014 |
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR, ... Lerche H, et al. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. 55: e89-93. PMID 24995671 DOI: 10.1111/epi.12712 |
0.362 |
|
| 2014 |
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, ... ... Lerche H, et al. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human Molecular Genetics. 23: 6069-80. PMID 24939913 DOI: 10.1093/hmg/ddu306 |
0.367 |
|
| 2014 |
Reid CA, Leaw B, Richards KL, Richardson R, Wimmer V, Yu C, Hill-Yardin EL, Lerche H, Scheffer IE, Berkovic SF, Petrou S. Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. Brain : a Journal of Neurology. 137: 1701-15. PMID 24747835 DOI: 10.1093/brain/awu077 |
0.382 |
|
| 2014 |
Steinhoff BJ, Hamer H, Trinka E, Schulze-Bonhage A, Bien C, Mayer T, Baumgartner C, Lerche H, Noachtar S. A multicenter survey of clinical experiences with perampanel in real life in Germany and Austria. Epilepsy Research. 108: 986-8. PMID 24721197 DOI: 10.1016/J.Eplepsyres.2014.03.015 |
0.347 |
|
| 2014 |
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, ... ... Lerche H, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Annals of Neurology. 75: 788-92. PMID 24591017 DOI: 10.1002/ana.24127 |
0.384 |
|
| 2014 |
Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Annals of Neurology. 75: 382-94. PMID 24318194 DOI: 10.1002/ana.24080 |
0.478 |
|
| 2013 |
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, ... ... Lerche H, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. American Journal of Human Genetics. 93: 967-75. PMID 24207121 DOI: 10.1016/J.Ajhg.2013.09.017 |
0.482 |
|
| 2013 |
Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA. RBFOX1 and RBFOX3 mutations in rolandic epilepsy. Plos One. 8: e73323. PMID 24039908 DOI: 10.1371/journal.pone.0073323 |
0.37 |
|
| 2013 |
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, ... ... Lerche H, et al. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain : a Journal of Neurology. 136: 3140-50. PMID 24014518 DOI: 10.1093/Brain/Awt233 |
0.545 |
|
| 2013 |
Ryvlin P, Nashef L, Lhatoo SD, Bateman LM, Bird J, Bleasel A, Boon P, Crespel A, Dworetzky BA, Høgenhaven H, Lerche H, Maillard L, Malter MP, Marchal C, Murthy JM, et al. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. The Lancet. Neurology. 12: 966-77. PMID 24012372 DOI: 10.1016/S1474-4422(13)70214-X |
0.446 |
|
| 2013 |
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, ... ... Lerche H, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 45: 1067-72. PMID 23933819 DOI: 10.1038/Ng.2728 |
0.435 |
|
| 2013 |
Lauxmann S, Boutry-Kryza N, Rivier C, Mueller S, Hedrich UB, Maljevic S, Szepetowski P, Lerche H, Lesca G. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. Epilepsia. 54: e117-21. PMID 23758435 DOI: 10.1111/epi.12241 |
0.501 |
|
| 2013 |
Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, MartÃnez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, et al. Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy & Behavior : E&B. 28: S87-90. PMID 23756490 DOI: 10.1016/J.Yebeh.2012.11.051 |
0.401 |
|
| 2013 |
Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG. Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. Seizure. 22: 483-6. PMID 23601850 DOI: 10.1016/j.seizure.2013.03.003 |
0.362 |
|
| 2013 |
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BPC, De Kovel CGF, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, et al. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy Epilepsia. 54: 265-271. PMID 23350840 DOI: 10.1111/epi.12084 |
0.448 |
|
| 2013 |
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, ... ... Lerche H, et al. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia. 54: 256-64. PMID 23294455 DOI: 10.1111/Epi.12078 |
0.319 |
|
| 2013 |
Lerche H, Shah M, Beck H, Noebels J, Johnston D, Vincent A. Ion channels in genetic and acquired forms of epilepsy. The Journal of Physiology. 591: 753-64. PMID 23090947 DOI: 10.1113/Jphysiol.2012.240606 |
0.46 |
|
| 2012 |
Orhan G, Wuttke TV, Nies AT, Schwab M, Lerche H. Retigabine/Ezogabine, a KCNQ/K(V)7 channel opener: pharmacological and clinical data. Expert Opinion On Pharmacotherapy. 13: 1807-16. PMID 22783830 DOI: 10.1517/14656566.2012.706278 |
0.369 |
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| 2012 |
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, ... ... Lerche H, et al. PRRT2 Mutations are the major cause of benign familial infantile seizures Human Mutation. 33: 1439-1443. PMID 22623405 DOI: 10.1002/humu.22126 |
0.36 |
|
| 2012 |
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, ... ... Lerche H, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 53: 1387-98. PMID 22612257 DOI: 10.1111/J.1528-1167.2012.03516.X |
0.503 |
|
| 2012 |
Rosenow F, Schade-Brittinger C, Burchardi N, Bauer S, Klein KM, Weber Y, Lerche H, Evers S, Kovac S, Hallmeyer-Elgner S, Winkler G, Springub J, Niedhammer M, Roth E, Eisensehr I, et al. The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 1093-8. PMID 22595362 DOI: 10.1136/jnnp-2011-301999 |
0.431 |
|
| 2012 |
Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, ... ... Lerche H, et al. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia. 53: 308-18. PMID 22242659 DOI: 10.1111/J.1528-1167.2011.03379.X |
0.344 |
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| 2011 |
Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Cağlayan H, Steinlein OK, Lerche H. Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures. Human Mutation. 32: E2283-93. PMID 21913284 DOI: 10.1002/humu.21554 |
0.31 |
|
| 2010 |
Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, et al. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia. 51: 2453-6. PMID 21204805 DOI: 10.1111/j.1528-1167.2010.02712.x |
0.477 |
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| 2010 |
Jurkat-Rott K, Lerche H, Weber Y, Lehmann-Horn F. Hereditary channelopathies in neurology. Advances in Experimental Medicine and Biology. 686: 305-34. PMID 20824453 DOI: 10.1007/978-90-481-9485-8_18 |
0.368 |
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| 2010 |
Wimmer VC, Reid CA, Mitchell S, Richards KL, Scaf BB, Leaw BT, Hill EL, Royeck M, Horstmann MT, Cromer BA, Davies PJ, Xu R, Lerche H, Berkovic SF, Beck H, et al. Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. The Journal of Clinical Investigation. 120: 2661-71. PMID 20628201 DOI: 10.1172/JCI42219 |
0.476 |
|
| 2010 |
Maljevic S, Wuttke TV, Seebohm G, Lerche H. KV7 channelopathies. Pflã¼Gers Archiv : European Journal of Physiology. 460: 277-88. PMID 20401729 DOI: 10.1007/s00424-010-0831-3 |
0.34 |
|
| 2010 |
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, ... Lerche H, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain : a Journal of Neurology. 133: 1403-14. PMID 20371507 DOI: 10.1093/brain/awq057 |
0.487 |
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| 2010 |
Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE. Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia. 51: 655-70. PMID 20100225 DOI: 10.1111/j.1528-1167.2009.02429.x |
0.332 |
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| 2009 |
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology. 66: 415-9. PMID 19798636 DOI: 10.1002/ana.21724 |
0.379 |
|
| 2009 |
Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, ... ... Lerche H, et al. Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nature Genetics. 41: 1043. PMID 19710717 DOI: 10.1038/Ng0909-1043 |
0.521 |
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| 2009 |
Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, ... ... Lerche H, et al. CLCN2 variants in idiopathic generalized epilepsy. Nature Genetics. 41: 954-5. PMID 19710712 DOI: 10.1038/Ng0909-954 |
0.507 |
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| 2009 |
Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Human Mutation. 30: 397-405. PMID 19191339 DOI: 10.1002/Humu.20876 |
0.364 |
|
| 2008 |
Weber YG, Lerche H. Genetic mechanisms in idiopathic epilepsies. Developmental Medicine and Child Neurology. 50: 648-54. PMID 18754913 DOI: 10.1111/j.1469-8749.2008.03058.x |
0.512 |
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| 2008 |
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain : a Journal of Neurology. 131: 1831-44. PMID 18577546 DOI: 10.1093/Brain/Awn113 |
0.399 |
|
| 2008 |
Weber YG, Jacob M, Weber G, Lerche H. A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1. Epilepsia. 49: 1959-64. PMID 18479394 DOI: 10.1111/j.1528-1167.2008.01646.x |
0.484 |
|
| 2008 |
Maljevic S, Wuttke TV, Lerche H. Nervous system KV7 disorders: breakdown of a subthreshold brake. The Journal of Physiology. 586: 1791-801. PMID 18238816 DOI: 10.1113/jphysiol.2008.150656 |
0.464 |
|
| 2008 |
Wuttke TV, Penzien J, Fauler M, Seebohm G, Lehmann-Horn F, Lerche H, Jurkat-Rott K. Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. The Journal of Physiology. 586: 545-55. PMID 18006581 DOI: 10.1113/jphysiol.2007.143826 |
0.311 |
|
| 2007 |
Hempelmann A, Cobilanschi J, Heils A, Muhle H, Stephani U, Weber Y, Lerche H, Sander T. Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy. Epilepsy Research. 74: 28-32. PMID 17215107 DOI: 10.1016/j.eplepsyres.2006.12.001 |
0.323 |
|
| 2006 |
Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud'homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, ... ... Lerche H, et al. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia. 47: 1682-90. PMID 17054691 DOI: 10.1111/J.1528-1167.2006.00677.X |
0.438 |
|
| 2006 |
Wuttke TV, Lerche H. Novel anticonvulsant drugs targeting voltage-dependent ion channels. Expert Opinion On Investigational Drugs. 15: 1167-77. PMID 16989594 DOI: 10.1517/13543784.15.10.1167 |
0.38 |
|
| 2006 |
Hunter J, Maljevic S, Shankar A, Siegel A, Weissman B, Holt P, Olson L, Lerche H, Escayg A. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. Neurobiology of Disease. 24: 194-201. PMID 16916607 DOI: 10.1016/J.Nbd.2006.06.011 |
0.334 |
|
| 2006 |
Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Annals of Neurology. 59: 983-7. PMID 16718694 DOI: 10.1002/Ana.20874 |
0.377 |
|
| 2005 |
Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F. Ion channel defects in idiopathic epilepsies. Current Pharmaceutical Design. 11: 2737-52. PMID 16101452 DOI: 10.2174/1381612054546815 |
0.482 |
|
| 2003 |
Haug K, Warnstedt M, Alekov AK, Sander T, RamÃrez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, ... ... Lerche H, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nature Genetics. 33: 527-32. PMID 12612585 DOI: 10.1038/ng1121 |
0.521 |
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