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Page 1
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: polster t. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: polster t. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293
Epilepsy surgery in Neurofibromatosis Type 1.
Barba C, Jacques T, Kahane P, Polster T, Isnard J, Leijten FS, Ozkara C, Tassi L, Giordano F, Castagna M, John A, Oz B, Salon C, Streichenberger N, Cross JH, Guerrini R. Barba C, et al. Among authors: polster t. Epilepsy Res. 2013 Aug;105(3):384-95. doi: 10.1016/j.eplepsyres.2013.02.021. Epub 2013 Apr 16. Epilepsy Res. 2013. PMID: 23597854
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: polster t. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
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: polster t. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: polster t. Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093711 Free PMC article.
Correction to: The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, Martin AS, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen F, Braun K, Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: polster t. Genet Med. 2019 Jul;21(7):1671. doi: 10.1038/s41436-018-0284-1. Genet Med. 2019. PMID: 30158694 Free PMC article.
Correction: The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks EH, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, NordliJr DR, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: polster t. Genet Med. 2019 Aug;21(8):1896. doi: 10.1038/s41436-018-0325-9. Genet Med. 2019. PMID: 30262923 Free PMC article.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: polster t. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
Genotype-phenotype correlation on 45 individuals with West syndrome.
Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR. Krey I, et al. Among authors: polster t. Eur J Paediatr Neurol. 2020 Mar;25:134-138. doi: 10.1016/j.ejpn.2019.11.010. Epub 2019 Nov 26. Eur J Paediatr Neurol. 2020. PMID: 31791873
73 results