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Article

Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation.

Journal of medical genetics - 20 Mar 2026

Sertié Andrea Laurato, Josino Raphaella, Goll Vitória Rezende, Nunes Goussain Filippo Ana Luiza, Campos Gabriele da Silva, do Rego Francisco, Siqueira Ellen de Souza, Farias de Alcântara Najila, Zachi Elaine Cristina, Passos-Bueno Maria Rita

Abstract excerpt

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 descriptions of individuals with pathogenic BRSK2 variants remain limited, and the molecular and cellular consequences of these mutations are poorly understood. This...

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Identifiers

PMID: 41423339
DOI: 10.1136/jmg-2025-111102

Genes

BRSK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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