Targeted syndrom under study
DLG4 (OMIM #602887)
Abstract
DLG4 encodes PSD-95, a protein fundamental for the organization of the post-synaptic density (PSD), a dynamic network of hundreds of proteins responsible for the modulation of strength and plasticity of the glutamatergic synapses. While this protein has been studied for many years from the molecular point of view, it is only in recent years that a neurodevelopmental disorder was linked to DLG4. The so called DLG4-related synaptopathy is characterized by intellectual disability, sleep disturbances, hypotonia, epilepsy and encephalopathy with status epilepticus during sleep (ESES) (Rodríguez-Palmero et al. 2021, PMID: 33597769).
The aim of this project is to identify new individuals with DLG4 variants and update the clinical phenotype for a better genotype phenotype correlation. We will have a special focus on epilepsy and collect electroencephalographic data.
The project will be carried out in close collaboration with ERN-EPICARE.
Coordinating clinicians/researchers
From ERN-EPICARE: Benedetta Kassabian MD – benedettakassabian@gmail.com
Guido Rubboli MD, Professor, Rikke Steensbjerre Møller – guru@filadelfia.dk
From ERN-ITHACA: Professor, PhD, and Zeynep Tümer MD, PhD, DMSc, Professor, co-chair of research working group ERN-ITHACA – zeynep.tumer@regionh.dk
Institution
Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes