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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: pringsheim m. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Pringsheim M, et al. Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019990 Free PMC article.
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.
von Stülpnagel C, van Baalen A, Borggraefe I, Eschermann K, Hartlieb T, Kiwull L, Pringsheim M, Wolff M, Kudernatsch M, Wiegand G, Striano P, Kluger G; NETRE Consortium. von Stülpnagel C, et al. Among authors: pringsheim m. Front Neurol. 2021 Jan 14;11:622510. doi: 10.3389/fneur.2020.622510. eCollection 2020. Front Neurol. 2021. PMID: 33519703 Free PMC article. Review.
Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study.
Sullivan J, Scheffer IE, Lagae L, Nabbout R, Pringsheim M, Talwar D, Polster T, Galer B, Lock M, Agarwal A, Gammaitoni A, Morrison G, Farfel G. Sullivan J, et al. Among authors: pringsheim m. Epilepsia. 2020 Nov;61(11):2396-2404. doi: 10.1111/epi.16722. Epub 2020 Oct 19. Epilepsia. 2020. PMID: 33078386 Free PMC article. Clinical Trial.
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program.
Guerrini R, Specchio N, Aledo-Serrano Á, Pringsheim M, Darra F, Mayer T, Gil-Nagel A, Polster T, Zuberi SM, Lothe A, Gammaitoni A, Strzelczyk A. Guerrini R, et al. Among authors: pringsheim m. Epilepsia Open. 2022 Dec;7(4):578-587. doi: 10.1002/epi4.12624. Epub 2022 Aug 8. Epilepsia Open. 2022. PMID: 35801621 Free PMC article.
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