De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Ignacio J Keller SarmientoBernabe I BustosJoanna BlackburnNicholas E F HacMaura RuzhnikovMatthea MonroeRebecca J LevyLisa KinsleyMegan LiVincenzo SilaniSteven J LubbeDimitri KraincNiccolò Emanuele MencacciPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
We expanded the phenotype of FRMD5-related disease and shed light on its role in brain function and development. We recommend including FRMD5 in the genetic workup of childhood-onset ataxia and nystagmus. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.