Article

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

2026-01-19

Abstract excerpt

Genetic disorders affecting the epigenetic machinery constitute a major group of neurodevelopmental conditions. Pathogenic variants in several ARID transcription factors—particularly ARID1A , ARID1B , and ARID2 —cause Coffin–Siris syndromes, all characterized by intellectual disability (ID). These genes encode core subunits of the BRG1/BRM-associated factor (BAF) chromatin remodeling complex. In contrast, ARID...

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Literature Corpus work: 1c89609b-830f-5f34-8097-afee7855f7aa
DOI: 10.64898/2026.01.15.698931

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