Work

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

Year: 2025

Type: article

DOI: 10.1136/jmg-2025-111102

Authors: 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

Institutions: Hospital Israelita Albert Einstein, Universidade de São Paulo, Hospital Universitário de Brasília

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Fundação de Amparo à Pesquisa do Estado de São Paulo

Awards: In vitro functional study of interleukin IL-17a associated with maternal immune activation in human neurodevelopment and Autism, Autism Spectrum Disorder: Genetic Architecture, Pathophysiological Mechanisms, and Diagnostic and Prognostic Tools., G5408099524

OpenAlex ID: W4417538579

FWCI: 1.104

Cites: 20

Cited by: 2

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