ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes
Hendrikus J. van Heesbeen, Nazim Rabouhi, Aurélie Gouronc, Angeline Preto, Justine Rousseau, Jade Charbonneau, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Estelle Colin, Bertrand Isidor, Sophie Nambot, Desiree DeMille, Pınar Bayrak‐Toydemir, Nicola Longo, , Philippe M. Campeau
This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.
bioRxiv · Jan 19, 2026 · PreprintGenetics