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Page 1
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: ruf s. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
PRRT2 mutations are the major cause of benign familial infantile seizures.
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, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Among authors: ruf s. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
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, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: ruf s. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. Lemke JR, et al. Among authors: ruf s. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P, Fogarasi A, Graneß I, Guerrini R, Hjalgrim H, Keimer R, Korff CM, Kurlemann G, Leiz S, Linder-Lucht M, Loddenkemper T, Makowski C, Mühe C, Nicolai J, Nikanorova M, Pellacani S, Philip S, Ruf S, Sánchez Fernández I, Schlachter K, Striano P, Sukhudyan B, Valcheva D, Vermeulen RJ, Weisbrod T, Wilken B, Wolf P, Kluger G. Lotte J, et al. Among authors: ruf s. Seizure. 2016 Feb;35:106-10. doi: 10.1016/j.seizure.2016.01.006. Epub 2016 Jan 6. Seizure. 2016. PMID: 26820223 Free article.
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: ruf s. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR. Datta AN, et al. Among authors: ruf s. Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410528 Free PMC article.
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.
Strzelczyk A, Grau J, Bast T, Bertsche A, Bettendorf U, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klotz KA, Kluger G, Knake S, Knuf M, Kurlemann G, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Rosenow F, Ruf S, Sauter M, Schäfer H, Schlump JU, Schubert-Bast S, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Zöllner JP. Strzelczyk A, et al. Among authors: ruf s. Expert Rev Clin Pharmacol. 2021 Jun;14(6):749-760. doi: 10.1080/17512433.2021.1911643. Epub 2021 May 31. Expert Rev Clin Pharmacol. 2021. PMID: 33792454 Review.
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: ruf s. 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.
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: ruf s. 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.
310 results