Publications by authors named "Balachandran Krishnamma Binukumar"
Mov Disord Clin Pract
January 2025
Article Synopsis
- The study aimed to identify genomic variations linked to dystonia in the Asian Indian population using next-generation sequencing.
- A total of 745 individuals were enrolled, and whole exome sequencing (WES) was performed on 267 patients, revealing pathogenic variants in 20.2% of them, including 14 novel variants.
- The gene THAP1 was found to be the most common associated with dystonia, and factors like multifocal/generalized distribution and family history increased the likelihood of finding positive results from WES.
Article Synopsis
- The study investigates the role of a master regulator gene in the development of excitatory neurons, specifically focusing on its function in cerebellar granule neuron progenitors (GNPs).
- Researchers found that dysfunction of this gene in GNPs reduced their proliferation and led to various cerebellar abnormalities, including hypoplasia and imbalances in neuron ratios.
- The findings suggest that deletion of this gene during early development can cause autism-like behaviors in mice and highlight uncharacterized gene variants associated with autism spectrum disorder in humans.
