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Page 1
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. Plecko B, et al. Among authors: hikel c. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S. Plecko B, et al. Among authors: hikel c. Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727. Neuropediatrics. 2005. PMID: 15944906
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial.
Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T; HEAD Study group; Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Heß S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kühne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattländer A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Straßburg HM, Töpke B, Trollmann R, Tuschen-Hofstätter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sönmez Ö, Reinhardt K, Traus M, Hoovey Z. Tacke M, et al. Among authors: hikel c. Seizure. 2018 Mar;56:115-120. doi: 10.1016/j.seizure.2018.01.015. Epub 2018 Feb 3. Seizure. 2018. PMID: 29475094 Free article. Clinical Trial.
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Weber YG, et al. Among authors: hikel c. Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. Epilepsia. 2004. PMID: 15144424 Free article.
L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.
Krey I, von Spiczak S, Johannesen KM, Hikel C, Kurlemann G, Muhle H, Beysen D, Dietel T, Møller RS, Lemke JR, Syrbe S. Krey I, et al. Among authors: hikel c. Neurotherapeutics. 2022 Jan;19(1):334-341. doi: 10.1007/s13311-021-01173-9. Epub 2022 Jan 7. Neurotherapeutics. 2022. PMID: 34997442 Free PMC article.
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Micalizzi A, et al. Among authors: hikel c. Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932191 Free PMC article.
Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study).
Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F; German HEAD Study Group. Borggraefe I, et al. Eur J Paediatr Neurol. 2013 Sep;17(5):507-14. doi: 10.1016/j.ejpn.2013.03.014. Epub 2013 Apr 30. Eur J Paediatr Neurol. 2013. PMID: 23642492 Clinical Trial.