Journal of medical genetics
Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation.
Andrea Laurato Sertié, Raphaella Josino, Vitória Rezende Goll, Ana Luiza Nunes Goussain Filippo, Gabriele da Silva Campos, Francisco do Rego, Ellen de Souza Siqueira, Najila Farias de Alcântara, Elaine Cristina Zachi, Maria Rita Passos-Bueno
Published: 202610.1136/jmg-2025-111102
Abstract
Deleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive clinical…
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