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Year Number of Results
2003 1
2004 1
2005 1
2008 1
2011 1
2012 4
2013 5
2014 6
2015 9
2016 5
2017 13
2018 9
2019 17
2020 7
2021 13
2022 5
2023 8
2024 2

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Page 1
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
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. Boothman I, et al. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Machine learning using multimodal clinical, electroencephalographic, and magnetic resonance imaging data can predict incident depression in adults with epilepsy: A pilot study.
Delgado-García G, Engbers JDT, Wiebe S, Mouches P, Amador K, Forkert ND, White J, Sajobi T, Klein KM, Josephson CB; Calgary Comprehensive Epilepsy Program Collaborators. Delgado-García G, et al. Among authors: klein km. Epilepsia. 2023 Oct;64(10):2781-2791. doi: 10.1111/epi.17710. Epub 2023 Jul 16. Epilepsia. 2023. PMID: 37455354
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Among authors: klein km. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
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, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: klein km. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
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. Schwarz N, et al. Among authors: klein km. Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21. Neurology. 2022. PMID: 35314505 Free PMC article.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: klein km. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Zöllner JP, Rosenow F, Strzelczyk A. Willems LM, et al. Among authors: klein km. Eur J Paediatr Neurol. 2021 Nov;35:111-122. doi: 10.1016/j.ejpn.2021.10.003. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34673401
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
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, 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, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, 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… See abstract for full author list ➔ Johannesen KM, et al. Among authors: klein km. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.
Willems LM, Rosenow F, Schubert-Bast S, Kurlemann G, Zöllner JP, Bast T, Bertsche A, Bettendorf U, Ebrahimi-Fakhari D, Grau J, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klein KM, Klotz KA, Kluger G, Knake S, Knuf M, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Ruf S, Sauter M, Schäfer H, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Strzelczyk A. Willems LM, et al. Among authors: klein km. CNS Drugs. 2021 Oct;35(10):1107-1122. doi: 10.1007/s40263-021-00839-4. Epub 2021 Jul 17. CNS Drugs. 2021. PMID: 34275102 Free PMC article.
Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany.
Zöllner JP, Conradi N, Sauter M, Knuf M, Knake S, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Zukunft B, Schubert-Bast S, Grau J, Willems LM, Rosenow F, Reese JP, Strzelczyk A. Zöllner JP, et al. Among authors: klein km. Neurol Res Pract. 2021 Jun 28;3(1):35. doi: 10.1186/s42466-021-00130-3. Neurol Res Pract. 2021. PMID: 34176514 Free PMC article.
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study.
Grau J, Zöllner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Willems LM, Rosenow F, Strzelczyk A. Grau J, et al. Among authors: klein km. Orphanet J Rare Dis. 2021 Jun 21;16(1):282. doi: 10.1186/s13023-021-01899-x. Orphanet J Rare Dis. 2021. PMID: 34154622 Free PMC article.
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Zöllner JP, et al. Among authors: klein km. Orphanet J Rare Dis. 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. Orphanet J Rare Dis. 2021. PMID: 34078440 Free PMC article. Review.
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
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. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
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, Møller RS, Riva A, Striano P, Zara F, Hemingway C, Marini C, Rosati A, Mei D, Montomoli M, Guerrini R, Cross JH, Sisodiya SM. Balestrini S, et al. Among authors: klein km. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1044-1052. doi: 10.1136/jnnp-2020-325932. Epub 2021 Apr 26. J Neurol Neurosurg Psychiatry. 2021. PMID: 33903184 Free PMC article.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
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, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 Free PMC article.
Prone, lateral, or supine positioning at seizure onset determines the postictal body position: A multicenter video-EEG monitoring cohort study.
Mahr K, Bergmann MP, Kay L, Möller L, Reif PS, Willems LM, Menzler K, Schubert-Bast S, Klein KM, Knake S, Rosenow F, Zöllner JP, Strzelczyk A. Mahr K, et al. Among authors: klein km. Seizure. 2020 Feb 21;76:173-178. doi: 10.1016/j.seizure.2020.02.008. Online ahead of print. Seizure. 2020. PMID: 32109735 Free article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: klein km. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: klein km. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
Assessment of genetic variant burden in epilepsy-associated brain lesions.
Niestroj LM, May P, Artomov M, Kobow K, Coras R, Pérez-Palma E, Altmüller J, Thiele H, Nürnberg P, Leu C, Palotie A, Daly MJ, Klein KM, Beschorner R, Weber YG, Blümcke I, Lal D. Niestroj LM, et al. Among authors: klein km. Eur J Hum Genet. 2019 Nov;27(11):1738-1744. doi: 10.1038/s41431-019-0484-4. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358956 Free PMC article.
Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.
Schubert-Bast S, Wolff M, Wiemer-Kruel A, von Spiczak S, Trollmann R, Reif PS, Pritchard C, Polster T, Neubauer BA, Mayer T, Macdonald D, Kurlemann G, Kluger G, Klein KM, Kieslich M, Kay L, Kalski M, Irwin J, Herting A, Carroll J, Bettendorf U, Bast T, Rosenow F, Strzelczyk A. Schubert-Bast S, et al. Among authors: klein km. Epilepsy Behav. 2019 Sep;98(Pt A):88-95. doi: 10.1016/j.yebeh.2019.06.021. Epub 2019 Jul 10. Epilepsy Behav. 2019. PMID: 31301455 Free article. Review.
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
Strzelczyk A, Schubert-Bast S, Bast T, Bettendorf U, Fiedler B, Hamer HM, Herting A, Kalski M, Kay L, Kieslich M, Klein KM, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, von Spiczak S, Stephani U, Trollmann R, Wiemer-Kruel A, Wolff M, Irwin J, Carroll J, Pritchard C, Rosenow F. Strzelczyk A, et al. Among authors: klein km. Epilepsia. 2019 Aug;60(8):1697-1710. doi: 10.1111/epi.16099. Epub 2019 Jun 27. Epilepsia. 2019. PMID: 31247127
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
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 YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.
Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kay L, Kieslich M, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, Herting A, von Spiczak S, Trollmann R, Wolff M, Irwin J, Carroll J, Macdonald D, Pritchard C, Klein KM, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Among authors: klein km. Eur J Paediatr Neurol. 2019 May;23(3):392-403. doi: 10.1016/j.ejpn.2019.02.014. Epub 2019 Feb 28. Eur J Paediatr Neurol. 2019. PMID: 30871879 Free article.
A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
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. Berghuis B, et al. Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar. Epilepsia Open. 2019. PMID: 30868120 Free PMC article.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: klein km. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus.
Strzelczyk A, Kay L, Bauer S, Immisch I, Klein KM, Knake S, Kowski A, Kunz R, Kurlemann G, Langenbruch L, Möddel G, Müller-Schlüter K, Reif PS, Schubert-Bast S, Steinhoff BJ, Steinig I, Willems LM, von Podewils F, Rosenow F. Strzelczyk A, et al. Among authors: klein km. Epilepsia. 2018 Aug;59(8):1549-1556. doi: 10.1111/epi.14476. Epub 2018 Jun 25. Epilepsia. 2018. PMID: 29943451
Invasive EEG-electrodes in presurgical evaluation of epilepsies: Systematic analysis of implantation-, video-EEG-monitoring- and explantation-related complications, and review of literature.
Willems LM, Reif PS, Spyrantis A, Cattani A, Freiman TM, Seifert V, Wagner M, You SJ, Schubert-Bast S, Bauer S, Klein KM, Rosenow F, Strzelczyk A. Willems LM, et al. Among authors: klein km. Epilepsy Behav. 2019 Feb;91:30-37. doi: 10.1016/j.yebeh.2018.05.012. Epub 2018 Jun 13. Epilepsy Behav. 2019. PMID: 29907526
[Psychogenic non epileptic seizures : Differential diagnostic features].
Reif PS, Willems LM, Strzelczyk A, Klein KM, Rosenow F. Reif PS, et al. Among authors: klein km. Herzschrittmacherther Elektrophysiol. 2018 Jun;29(2):155-160. doi: 10.1007/s00399-018-0557-z. Epub 2018 May 14. Herzschrittmacherther Elektrophysiol. 2018. PMID: 29761337 Review. German.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;; Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;; Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;; Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;; Cavalleri GL. McCormack M, et al. Among authors: klein km. Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Neurology. 2018. PMID: 29288229 Free PMC article.
Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.
Rosenow F, van Alphen N, Becker A, Chiocchetti A, Deichmann R, Deller T, Freiman T, Freitag CM, Gehrig J, Hermsen AM, Jedlicka P, Kell C, Klein KM, Knake S, Kullmann DM, Liebner S, Norwood BA, Omigie D, Plate K, Reif A, Reif PS, Reiss Y, Roeper J, Ronellenfitsch MW, Schorge S, Schratt G, Schwarzacher SW, Steinbach JP, Strzelczyk A, Triesch J, Wagner M, Walker MC, von Wegner F, Bauer S. Rosenow F, et al. Among authors: klein km. Epilepsy Behav. 2017 Nov;76:13-18. doi: 10.1016/j.yebeh.2017.06.041. Epub 2017 Sep 13. Epilepsy Behav. 2017. PMID: 28917501 Review.
Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.
Bauer S, van Alphen N, Becker A, Chiocchetti A, Deichmann R, Deller T, Freiman T, Freitag CM, Gehrig J, Hermsen AM, Jedlicka P, Kell C, Klein KM, Knake S, Kullmann DM, Liebner S, Norwood BA, Omigie D, Plate K, Reif A, Reif PS, Reiss Y, Roeper J, Ronellenfitsch MW, Schorge S, Schratt G, Schwarzacher SW, Steinbach JP, Strzelczyk A, Triesch J, Wagner M, Walker MC, von Wegner F, Rosenow F. Bauer S, et al. Among authors: klein km. Epilepsy Behav. 2017 Nov;76:7-12. doi: 10.1016/j.yebeh.2017.06.040. Epub 2017 Sep 14. Epilepsy Behav. 2017. PMID: 28917498 Review.
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. Among authors: klein km. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
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, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D. Pérez-Palma E, et al. Among authors: klein km. J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29. J Med Genet. 2017. PMID: 28756411 Free PMC article.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan; Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Santiago-Sim T, et al. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343629 Free PMC article.
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RES Consortium. EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.be, et al. Am J Hum Genet. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.012. Am J Hum Genet. 2017. PMID: 28061363 Free PMC article. No abstract available.
Precision medicine in genetic epilepsies: break of dawn?
Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM. Reif PS, et al. Among authors: klein km. Expert Rev Neurother. 2017 Apr;17(4):381-392. doi: 10.1080/14737175.2017.1253476. Epub 2016 Nov 10. Expert Rev Neurother. 2017. PMID: 27781560 Review.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S. Hardies K, et al. Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19. Brain. 2016. PMID: 27435091 Free PMC article.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: klein km. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
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, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
Investigation of GRIN2A in common epilepsy phenotypes.
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, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium; von Spiczak S, Lemke JR. Lal D, et al. Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2. Epilepsy Res. 2015. PMID: 26220384
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
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, Becker AJ, Perucca E, Zara F, Sander T, Weber YG. Lal D, et al. Among authors: klein km. Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15. Epilepsia. 2015. PMID: 26174448 Free article.
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
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, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium; Sander T. Lal D, et al. PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May. PLoS Genet. 2015. PMID: 25950944 Free PMC article.
Non-invasive EEG evaluation in epilepsy diagnosis.
Rosenow F, Klein KM, Hamer HM. Rosenow F, et al. Among authors: klein km. Expert Rev Neurother. 2015 Apr;15(4):425-44. doi: 10.1586/14737175.2015.1025382. Epub 2015 Mar 16. Expert Rev Neurother. 2015. PMID: 25779862 Review.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, 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 consortium; 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. Syrbe S, et al. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Hardies K, et al. Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30. Hum Mol Genet. 2015. PMID: 25552650 Free PMC article.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
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, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
Genetics of vasovagal syncope.
Klein KM, Berkovic SF. Klein KM, et al. Auton Neurosci. 2014 Sep;184:60-5. doi: 10.1016/j.autneu.2014.03.008. Epub 2014 Apr 12. Auton Neurosci. 2014. PMID: 24794249 Review.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability--a pharmacogenetic transcranial magnetic stimulation study.
Menzler K, Hermsen A, Balkenhol K, Duddek C, Bugiel H, Bauer S, Schorge S, Reif PS, Klein KM, Haag A, Oertel WH, Hamer HM, Knake S, Trucks H, Sander T, Rosenow F; EPICURE-Consortium. Menzler K, et al. Among authors: klein km. Epilepsia. 2014 Feb;55(2):362-9. doi: 10.1111/epi.12515. Epub 2014 Jan 13. Epilepsia. 2014. PMID: 24417206 Free article. Clinical Trial.
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Dibbens LM, et al. Among authors: klein km. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Lal D, et al. Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350840 Free article.
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
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, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Møller RS, et al. Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7. Epilepsia. 2013. PMID: 23294455 Free article.
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.
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, Berrouschot J, Arnold S, Schröder M, Beige A, Oertel WH, Strzelczyk A, Haag A, Reif PS, Hamer HM; LaLiMo Study Group. Rosenow F, et al. Among authors: klein km. J Neurol Neurosurg Psychiatry. 2012 Nov;83(11):1093-8. doi: 10.1136/jnnp-2011-301999. Epub 2012 May 17. J Neurol Neurosurg Psychiatry. 2012. PMID: 22595362 Clinical Trial.
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; 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, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659 Free article.
Weight change in monozygotic twins treated with valproate.
Klein KM, Hamer HM, Reis J, Schmidtke J, Oertel WH, Theisen FM, Hebebrand J, Rosenow F. Klein KM, et al. Obes Res. 2005 Aug;13(8):1330-4. doi: 10.1038/oby.2005.161. Obes Res. 2005. PMID: 16129714 Free article.