KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Sangeetha YoganathanRobyn WhitneyMaya ThomasSumita DandaAkbar Mohamed ChettaliAsuri N PrasadSali M K FarhanDaad AlSowatMusaad AbukhaledHesham AldhalaanVykuntaraju K GowdaUddhava V KinhalArun Y BylappaRamesh KonankiLokesh LingappaBindu Madhavi ParchuriJuan Pablo AppendinoMorris H ScantleburyJessie CunninghamAristides HadjinicolaouChristelle Moufawad El AchkarMahesh Appasaheb KamateRamshekhar N MenonManna JoseGillian RiordanLakshminarayanan KannanVivek JainRanjith Kumar ManokaranVann ChauElizabeth J DonnerGregory CostainBerge A MinassianPuneet JainPublished in: Epilepsia (2024)
This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7-related disorders. Early onset drug-resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials.