Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Matthew ColemanPaulo Pinares-GarciaSarah E StephensonWei Shern LeeDaniz KooshavarCatriona A McleanKatherine B HowellRichard J LeventerChristopher A ReidPaul J LockhartPublished in: Neurology. Genetics (2024)
HCN4 provides a biomarker for the genetic spectrum of mTORopathies and may present a potential therapeutic target for seizure control in mTOR-related epilepsy.