MILH , Mathieu

Purpose: This study aims to evaluate the performance of 18 F-FDG PET for distinguishing the epileptogenic zone (EZ) from propagation and non-involved zones at brain area level, as defined using stereo-EEG, in patients with pharmacoresistant epilepsy due to malformations of cortical development (MCD). Additionally, we seek to determine the...

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Results: Forty-eight patients...