Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Giulia BarciaNicole ChemalyMathieu KuchenbuchMonika EisermannStéphanie Gobin-LimballeViorica CiornaAlfons MacayaLaetitia LambertFanny DuboisDiane DoummarThierry Billette de VillemeurNathalie VilleneuveMarie-Anne BarthezCaroline NavaNathalie BoddaertAnna KaminskaNadia Bahi-BuissonMathieu MilhStéphane AuvinJean-Paul BonnefontRima NabboutPublished in: Neurology. Genetics (2019)
The majority of the KCNT1 mutations appear to cluster in hot spots essential for the channel activity. A same mutation can be linked to a spectrum of conditions ranging from EMFSI to asymptomatic carrier, even in the same family. None of the antiepileptic therapies displayed clinical efficacy, including quinidine in 2 patients.