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KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. Neubauer BA, et al. Among authors: sander t. Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec. Neurology. 2008. PMID: 18625963
DEPDC5 mutations in genetic focal epilepsies of childhood.
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, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. Lal D, et al. Among authors: sander t. Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14. Ann Neurol. 2014. PMID: 24591017
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
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, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium; Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F. Reinthaler EM, et al. Among authors: sander t. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28. Ann Neurol. 2015. PMID: 25726841
Photosensitivity: genetics and clinical significance.
Neubauer BA, Waltz S, Grothe M, Hahn A, Tuxhorn I, Sander T, Kurlemann G, Stephani U. Neubauer BA, et al. Among authors: sander t. Adv Neurol. 2005;95:217-26. Adv Neurol. 2005. PMID: 15508925 No abstract available.
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
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. Lal D, et al. Among authors: sander t. PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013. PLoS One. 2013. PMID: 24039908 Free PMC article.
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. Among authors: sander t. Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2. Epilepsy Res. 2015. PMID: 26220384
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Lal D, et al. Among authors: sander t. PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016. PLoS One. 2016. PMID: 26990884 Free PMC article. Clinical Trial.
CHD2 variants are a risk factor for photosensitivity in epilepsy.
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, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Among authors: sander t. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
403 results