Journal article

Lack of response to quinidine in KCNT1-related neonatal epilepsy

Adam L Numis, Umesh Nair, Anita N Datta, Tristan T Sands, Michael S Oldham, Akash Patel, Melody Li, Elena Gazina, Steven Petrou, Maria Roberta Cilio

EPILEPSIA | WILEY | Published : 2018

Abstract

OBJECTIVE: To evaluate the clinical efficacy and safety of quinidine in patients with KCNT1-related epilepsy of infancy with migrating focal seizures (EIMFS) in the infantile period and to compare with the effect of quinidine on mutant channels in vitro. METHODS: We identified 4 patients with EIMFS with onset in the neonatal period, pathogenic variants in the KCNT1 gene, and lack of response to AEDs. Patients were prospectively enrolled, treated with quinidine, and monitored according to a predefined protocol. Electroclinical, neuroimaging, and genetic data were reviewed. Two patients had novel variants in the KCNT1 gene that were modeled in Xenopus oocytes with channel properties characteri..

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Grants

Funding Acknowledgements

Dr. Oldham is currently affiliated with Medpace, Cincinnati, OH. Dr Petrou is a cofounder and equity holder of Praxis Precision Medicines (Cambridge, Massachusetts) and RogCon (Miami Beach, Florida). He is on the Scientific Advisory Board member and equity holder of Pairnomix (Minneapolis, Minnesota). Dr. Cilio receives research funding, paid to her Institution, from Insys Therapeutics for company-sponsored trials, and received fees and travel support for serving in a scientific advisory board from BioMarin Pharmaceuticals. The remaining authors have no conflicts of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.