| Abstrakt: |
Researchers at Baylor University College of Medicine have made new findings in the field of Pain and Central Nervous System. They have discovered that synaptic vesicle cycle disorders, which are caused by pathogenic variants in presynaptic proteins, can lead to a range of neurological symptoms such as intellectual disability, epilepsy, movement disorders, cerebral visual impairment, and psychiatric symptoms. The most common disorder in this category is STXBP1 encephalopathy, which is caused by mutations in the STXBP1 gene. The researchers found that haploinsufficiency of STXBP1 in GABAergic/glycinergic neurons leads to developmental delay, epilepsy, and various cognitive and psychiatric deficits, while haploinsufficiency in glutamatergic neurons results in a different set of cognitive and seizure phenotypes. These findings suggest that targeting specific neurotransmitter systems could potentially modulate disease phenotypes. [Extracted from the article] |
