Publications by authors named "E Leguern"
Article Synopsis
- - Genetic generalized epilepsy (GGE) includes types like childhood absence epilepsy and juvenile myoclonic epilepsy, showing a higher risk of occurrence in first-degree relatives of affected individuals, suggesting a strong genetic component.
- - Research, including whole exome sequencing from families in Sudan, has identified specific genetic variants linked to GGE, indicating it is genetically diverse and likely influenced by multiple genes rather than a single cause.
- - The study emphasizes the importance of examining familial cases, as well as using populations with unique genetic backgrounds, to better understand the complex genetics of GGE, reinforcing the idea that it may have oligogenic inheritance patterns.
Article Synopsis
- The study focuses on hypothalamic hamartomas (HHs), rare brain lesions linked to difficult-to-treat epilepsy, and explores their genetic causes in a new cohort of 9 HH patients.
- Researchers found harmful genetic variants in known HH-related genes in 7 out of 9 cases, also discovering a new two-hit mutation involving a gene related to brain development.
- The results highlight the significance of somatic mutations in Shh and cilia signaling pathways and point to the importance of genetic testing on brain tissue for understanding epilepsy disorders.
Background: biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinson's disease (PD). However, the variants responsible for suspected PD individuals are not always identified with standard genetic testing.
Objectives: Identify the genetic cause in two siblings with a -PD phenotype using long-read sequencing (LRS).