Ontology highlight
ABSTRACT:
SUBMITTER: Fitzgerald MP
PROVIDER: S-EPMC6694367 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Fitzgerald Mark P MP Fiannacca Martina M Smith Douglas M DM Gertler Tracy S TS Gunning Boudewijn B Syrbe Steffen S Verbeek Nienke N Stamberger Hannah H Weckhuysen Sarah S Ceulemans Berten B Schoonjans An-Sofie AS Rossi Massimiliano M Demarquay Geneviève G Lesca Gaetan G Olofsson Kern K Koolen D A DA Hornemann Frauke F Baulac Stephanie S Rubboli Guido G Minks Kelly Q KQ Lee Bohoon B Helbig Ingo I Dlugos Dennis D Møller Rikke S RS Bearden David D
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20190701 3
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 ef ...[more]