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 Lockhart

Published 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.

Keyphrases

genome wide
cell proliferation
risk assessment