Article
The clinical trajectory and everyday life of adults with DLG4-related synaptopathy: Caregiver-reported experiences
2026-08-20
Abstract excerpt
<title>Abstract</title> <p> <italic>DLG4</italic> -related synaptopathy ( <italic>DLG4</italic> -RS) is a neurodevelopmental disorder caused by pathogenic variants in <italic>DLG4</italic> . The main clinical features include global developmental delay and intellectual disability, epilepsy, and disturbances related to sleep, movement, and behaviour. In the literature, most individuals with <italic>DLG4</it...
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Identifiers and source
- Literature Corpus work
- 4072b5cf-ebcd-5cfc-bfbe-95960d3ad01a
- DOI
- 10.21203/rs.3.rs-10622880/v1