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Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.
Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R; EpiPGX Consortium; Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE, Moya-Alfaro ML, Zhang Y, Zhou D, Pietrafusa N, Specchio N, Japaridze G, Beniczky S, Janmohamed M, Kwan P, Syvertsen M, Selmer KK, Vorderwülbecke BJ, Holtkamp M, Viswanathan LG, Sinha S, Baykan B, Altindag E, von Podewils F, Schulz J, Seneviratne U, Viloria-Alebesque A, Karakis I, D'Souza WJ, Sander JW, Koeleman BPC, Otte WM, Braun KPJ. Stevelink R, et al. Among authors: selmer kk. EClinicalMedicine. 2022 Nov 11;53:101732. doi: 10.1016/j.eclinm.2022.101732. eCollection 2022 Nov. EClinicalMedicine. 2022. PMID: 36467455 Free PMC article.
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: selmer kk. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Genome-wide linkage analysis with clustered SNP markers.
Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T. Selmer KK, et al. J Biomol Screen. 2009 Jan;14(1):92-6. doi: 10.1177/1087057108327327. J Biomol Screen. 2009. PMID: 19171925
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673951
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: selmer kk. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: selmer kk. Hum Mutat. 2016 Jul;37(7):711. doi: 10.1002/humu.22997. Epub 2016 Apr 15. Hum Mutat. 2016. PMID: 27300082 No abstract available.
85 results