Publications by authors named "Amelie Cordovado"
Hum Mol Genet
September 2022
Article Synopsis
- Intellectual disability (ID) is often linked to genetic defects, with this study identifying 14 SEMA6B gene variants in patients diagnosed with ID but without epilepsy.
- The researchers conducted experiments showing that these SEMA6B variants affect protein localization and lead to reduced spine density in both cell cultures and chicken embryos, indicating a significant role in neuron development.
- The findings broaden the understanding of SEMA6B-related conditions, suggesting it is also a contributor to ID, expanding its clinical significance beyond previously known associations with epilepsy.
