Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson, Yi Ren, Yifan Yang, Yan Yan Or, Laura Williams, Christopher J. Gafuik, Chloé Quēlin, Boris Keren, Sarah Schuhmann, Georgia Vasileiou, Alexia Bourgois, Antonio Vitobello, Christophe Philippe, , Guang Yang
The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.
medRxiv · Jun 20, 2025 · PreprintGenetic & Genomic Medicine