Publications by authors named "I Bagnasco"
Objective: Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neuropediatricians, and patient advocacy representatives.
Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics.
Article Synopsis
- The translation elongation factor eEF1A2 is crucial for binding aminoacyl-tRNA to the ribosome, and since 2012, 21 harmful variants have been linked to severe neurodevelopmental disorders, including epilepsy and intellectual disabilities.
- A recent study gathered 26 patients with EEF1A2 variants, revealing a milder clinical profile than previously reported, with higher walking and language skills and lower rates of intellectual disability and epilepsy.
- The research identified 8 new EEF1A2 variants and suggests that severe and moderate phenotypes are linked to specific protein regions affecting GTP exchange, while milder variants may affect secondary functions, contributing to a broader understanding
Article Synopsis
- EEM is a generalized epilepsy marked by eyelid myoclonia and other symptoms, showing a potential genetic link which is under investigation.
- A study involved 105 individuals with EEM, using whole exome sequencing to analyze genetic variants between two groups: those with isolated EEM (EEM-) and those with additional intellectual disabilities or psychiatric disorders (EEM+).
- Findings revealed that pathogenic variants were predominantly in the CHD2 gene for the EEM+ group, suggesting a stronger genetic association with this subtype, while evidence for a connection in the EEM- group remains inconclusive.
Background: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described.
View Article and Find Full Text PDF