| |  Online-Ressource |
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| Verfasst von: | Fitzgerald, Mark P. [VerfasserIn]  |
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| | Fiannacca, Martina [VerfasserIn] |
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| | Smith, Douglas M. [VerfasserIn] |
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| | Gertler, Tracy S. [VerfasserIn] |
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| | Gunning, Boudewijn [VerfasserIn] |
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| | Syrbe, Steffen [VerfasserIn] |
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| | Verbeek, Nienke [VerfasserIn] |
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| | Stamberger, Hannah [VerfasserIn] |
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| | Weckhuysen, Sarah [VerfasserIn] |
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| | Ceulemans, Berten [VerfasserIn] |
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| | Schoonjans, An-Sofie [VerfasserIn] |
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| | Rossi, Massimiliano [VerfasserIn] |
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| | Demarquay, Geneviève [VerfasserIn] |
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| | Lesca, Gaetan [VerfasserIn] |
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| | Olofsson, Kern [VerfasserIn] |
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| | Koolen, D. A. [VerfasserIn] |
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| | Hornemann, Frauke [VerfasserIn] |
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| | Baulac, Stephanie [VerfasserIn] |
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| | Rubboli, Guido [VerfasserIn] |
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| | Minks, Kelly Q. [VerfasserIn] |
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| | Lee, Bohoon [VerfasserIn] |
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| | Helbig, Ingo [VerfasserIn] |
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| | Dlugos, Dennis [VerfasserIn] |
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| | Møller, Rikke S. [VerfasserIn] |
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| | Bearden, David [VerfasserIn] |
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| Titel: | Treatment responsiveness in KCNT1-related epilepsy |
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| Verf.angabe: | Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans, An-Sofie Schoonjans, Massimiliano Rossi, Geneviève Demarquay, Gaetan Lesca, Kern Olofsson, D.A. Koolen, Frauke Hornemann, Stephanie Baulac, Guido Rubboli, Kelly Q. Minks, Bohoon Lee, Ingo Helbig, Dennis Dlugos, Rikke S. Møller, David Bearden |
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| E-Jahr: | 2019 |
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| Jahr: | 03 May 2019 |
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| Umfang: | 10 S. |
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| Fussnoten: | Gesehen am 18.11.2019 |
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| Titel Quelle: | Enthalten in: Neurotherapeutics |
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| Ort Quelle: | New York, NY : Springer, 2007 |
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| Jahr Quelle: | 2019 |
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| Band/Heft Quelle: | 16(2019), 3, Seite 848-857 |
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| ISSN Quelle: | 1878-7479 |
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| Abstract: | Pathogenic variants in KCNT1 represent an important cause of treatment-resistant epilepsy, for which an effective therapy has been elusive. Reports about the effectiveness of quinidine, a candidate precision therapy, have been mixed. We sought to evaluate the treatment responsiveness of patients with KCNT1-related epilepsy. We performed an observational study of 43 patients using a collaborative KCNT1 patient registry. We assessed treatment efficacy based upon clinical seizure reduction, side effects of quinidine therapy, and variant-specific responsiveness to treatment. Quinidine treatment resulted in a > 50% seizure reduction in 20% of patients, with rare patients achieving transient seizure freedom. Multiple other therapies demonstrated some success in reducing seizure frequency, including the ketogenic diet and vigabatrin, the latter particularly in patients with epileptic spasms. Patients with the best quinidine response had variants that clustered distal to the NADP domain within the RCK2 domain of the protein. Half of patients did not receive a quinidine trial. In those who did, nearly half did not achieve therapeutic blood levels. More favorable response to quinidine in patients with KCNT1 variants distal to the NADP domain within the RCK2 domain may suggest a variant-specific response. |
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| DOI: | doi:10.1007/s13311-019-00739-y |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1007/s13311-019-00739-y |
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| | Verlag: https://doi.org/10.1007/s13311-019-00739-y |
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| | DOI: https://doi.org/10.1007/s13311-019-00739-y |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ADNFLE |
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| | EIMFS |
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| | EOEE |
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| | MPSI |
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| | Quinidine |
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| K10plus-PPN: | 1682089576 |
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| Verknüpfungen: | → Zeitschrift |
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Treatment responsiveness in KCNT1-related epilepsy / Fitzgerald, Mark P. [VerfasserIn]; 03 May 2019 (Online-Ressource)
