Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports.

ABSTRACT:

Background

The SETD1B gene is instrumental in human intelligence and nerve development. Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders, seizures, and language delay.

Case summary

This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation, epilepsy, and language delay resulting from a new mutation in the SETD1B gene. Three individuals with these symptoms were selected, and their clinical symptoms, gene test results, and treatment were analyzed. This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach. Among the three patients (two females and one male, aged 8, 4, and 1, respectively), a

SUBMITTER: Ding L 

PROVIDER: S-EPMC10835677 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature