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Page 1
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. Among authors: kluger g. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A. Nissenkorn A, et al. Among authors: kluger g. Epilepsia. 2023 Apr;64(4):866-874. doi: 10.1111/epi.17530. Epub 2023 Feb 20. Epilepsia. 2023. PMID: 36734057
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EMA study group. Cerulli Irelli E, et al. Among authors: kluger gj. Epilepsia. 2022 Oct 28. doi: 10.1111/epi.17450. Online ahead of print. Epilepsia. 2022. PMID: 36307934
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.
Cerulli Irelli E, Cocchi E, Ramantani G, Morano A, Riva A, Caraballo RH, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EEM Study Group. Cerulli Irelli E, et al. Among authors: kluger gj. Epilepsia. 2023 Jun;64(6):e105-e111. doi: 10.1111/epi.17609. Epub 2023 Apr 18. Epilepsia. 2023. PMID: 37021337
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany.
Maltseva M, Schubert-Bast S, Zöllner JP, Bast T, Mayer T, von Spiczak S, Ruf S, Trollmann R, Wolff M, Hornemann F, Klotz KA, Jacobs J, Kurlemann G, Neubauer BA, Polster T, Syrbe S, Bertsche A, Bettendorf U, Kluger G, Flege S, Rosenow F, Kay L, Strzelczyk A. Maltseva M, et al. Among authors: kluger g. Orphanet J Rare Dis. 2023 Apr 29;18(1):98. doi: 10.1186/s13023-023-02697-3. Orphanet J Rare Dis. 2023. PMID: 37120555 Free PMC article.
Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
Kühne F, Becker LL, Bast T, Bertsche A, Borggraefe I, Boßelmann CM, Fahrbach J, Hertzberg C, Herz NA, Hirsch M, Holtkamp M, Janello C, Kluger GJ, Kurlemann G, Lerche H, Makridis KL, von Podewils F, Pringsheim M, Schubert-Bast S, Schulz J, Schulze-Bonhage A, Steinbart D, Steinhoff BJ, Strzelczyk A, Syrbe S, De Vries H, Wagner C, Wagner J, Wilken B, Prager C, Klotz KA, Kaindl AM. Kühne F, et al. Among authors: kluger gj. Epilepsia Open. 2023 Jun;8(2):360-370. doi: 10.1002/epi4.12699. Epub 2023 Feb 6. Epilepsia Open. 2023. PMID: 36693811 Free PMC article.
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: kluger g. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Among authors: kluger g. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.
Co-occurring malformations of cortical development and SCN1A gene mutations.
Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R. Barba C, et al. Among authors: kluger g. Epilepsia. 2014 Jul;55(7):1009-19. doi: 10.1111/epi.12658. Epub 2014 Jun 5. Epilepsia. 2014. PMID: 24902755 Free article.
158 results