Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J Lubbe, Dimitri Krainc, Niccolò E Mencacci
BACKGROUND: FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. OBJECTIVES: We describe 2 patients presenting with childhood-onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co-expression network analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain. METHODS: Trio-based whole-exome sequencing was performed in both patients, and CoExp web tool was used to conduct WGCNA...
April 4, 2024: Movement Disorders: Official Journal of the Movement Disorder Society