Targeted gene under study:

OMIM 618663


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 –

Renzo Guerrini –


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.