Publications by authors named "G Dorfmuller"
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.
Within the neurosurgeon's armamentarium, stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RFTC) is an elegant tool to manage epilepsy in selected cases. This technique can 1) be curative when targeting small-volume ictal onset zones, 2) be used as a diagnostic tool by observing the consequences of coagulation on seizures or by recording the epileptic network in SEEG, and 3) offer palliative treatment through multiple lesions within a wide epileptic network. It is performed on awake patients, under continuous neurological evaluation, while monitoring impedance, time, and energy delivered.
View Article and Find Full Text PDFCortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic mosaicism due to post-zygotic mutations in genes of the PI3K-AKT-mTOR pathway, which produce a subset of dysmorphic cells clustered within healthy brain tissue. Here we show a correlation between epileptiform activity in acute cortical slices obtained from human surgical FCDII brain tissues and the density of dysmorphic neurons.
View Article and Find Full Text PDFArticle Synopsis
- Severe drug-resistant unilateral hemispheric epilepsy presents surgical challenges, leading to a shift from anatomical hemispherectomy to functional hemispherotomy, which has lower complications and improved outcomes.
- A consensus statement was created by European epilepsy surgeons to outline history, indications, surgical techniques, and complications for hemispheric disconnection procedures.
- This paper represents the first European consensus on the topic, providing an overview of current practices and emphasizing the need for further long-term outcome data, especially regarding minimal invasive techniques.
Background And Objective: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied.
View Article and Find Full Text PDF