De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy.

ABSTRACT:

Background

The gastrulation brain homeobox (Gbx) family, including GBX1 and GBX2, is crucial for hindbrain development and contributes to the morphogenesis of the midbrain-hindbrain boundary (MHB). While the role of the GBX1 gene in the development of the human nervous system remains to be elucidated, its variant in humans has not previously been reported to be associated with disease.

Methods

The patient presenting with sleep panic attacks underwent comprehensive clinical assessments, including electroencephalograph (EEG), magnetic resonance imaging (MRI), and genetic testing through whole exome sequencing (WES). Zebrafish models were generated through gbx1 gene crispants to investigate the functional impact of identified genetic variants.

Results

The patient in our

SUBMITTER: Zhang B 

PROVIDER: S-EPMC12168089 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature