That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

That’s because the mutation at the heart of Dravet creates a phenomenon known as haploinsufficiency, in which a person falls ill if they have only a single working copy of a gene. That lone gene ...

Among persons with the WAGR syndrome, BDNF haploinsufficiency is associated with lower levels of serum BDNF and with childhood-onset obesity; thus, BDNF may be important for energy homeostasis in ...

“Haploinsufficiency in the SLC6A1 gene has been identified as a cause of genetic epilepsy, yet there remains a lack of approved disease-modifying therapies,” said Steven Gray, Ph.D., Chief ...

The purpose of this study was to investigate the impact of CHCHD4 haploinsufficiency on mitochondrial function and brain injury after cerebral hypoxia-ischemia (HI) in neonatal mice. CHCHD4 +/− ...

Additionally, the study investigated the potential relationship between CHD8 haploinsufficiency and autism-related behavioral phenotypes. Study: CHD8 regulates gut epithelial cell function and ...

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