KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Felippe BorlotAhmed AbushamaNadine Morrison-LevyPuneet JainKollencheri Puthenveettil VinayanMusaad AbukhalidHesham M AldhalaanHanin S AlmuzainiSheffali GulatiTova HershkovitzRamesh KonankiLokesh LingappaAimee F LuatShatha ShafiBrahim TabarkiMaya ThomasSangeetha YoganathanMajid AlfadhelRavindra AryaElizabeth J DonnerSalleh N EhaidebVykuntaraju K GowdaVivek JainPriyanka MadaanKenneth A MyersHiroshi OtsuboPrateek PandaJitendra Kumar SahuLetícia P B SampaioSuvasini SharmaElisabeth Simard-TremblayMaria ZakRobyn WhitneyPublished in: Epilepsia (2020)
Our cohort reinforces common aspects of this highly pleiotropic entity. EIMFS manifesting with refractory tonic seizures was the most common. Cannabidiol, diet therapy, and quinidine seem to offer the best chances of seizure reduction, although evidence-based practice is still unavailable.