Targeted gene under study:
OMIM 618663
Abstract
Biallelic variants of DMXL2, a gene expressed in the brain have been reported recently in a limited numbers of patients with early-onset DEE and Experimental studies have suggested a role for this gene in autophagy (PMID: 31688942).
The aim of the present collaborative study, open to the ERN Epicare who are interested in contributing, is to constitute a larger series of patients, to refine the electroclinical phenotype of the DMXL2-related DEE and to investigate more in depth the pathophysiological mechanisms, especially concerning its impact on autophagy.
Coordinating clinicians
Gaetan Lesca – gaetan.lesca@chu-lyon.fr
Renzo Guerrini – renzo.guerrini@meyer.it
Institution
University Hospitals of Lyon
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Possible
3- Linked to a translational/basic research project: Yes, Dr. Julien Courchet, Neuromyogene institute, Claude Bernard Lyon 1 University.