Gene/phenotype/disorder under study
OMIM # 616230
Abstract
Biallelic pathogenic variants in CERS1 (ceramide synthase 1) cause Progressive Myoclonic Epilepsy type 8 (EPM8), a very rare neurogenetic disorder characterized by myoclonus, epilepsy, ataxia, cognitive impairment and progressive neurological decline. To date, only a few cases have been reported and the full phenotypic spectrum remains poorly defined. We are conducting an international collaborative study to collect detailed clinical, genetic and neuroimaging data from patients carrying biallelic CERS1 variants (classified as pathogenic, likely pathogenic or of uncertain significance). Our aim is to better delineate the natural history and phenotypic variability of CERS1-related disease and to improve early recognition and diagnosis.
Coordinating team
David Campo-Caballero – DAVID.CAMPOCABALLERO@osakidetza.eus
Pablo Iruzubieta – pablo.iruzubieta@hotmail.es
Institutions
Department of Neurology, Donostia University Hospital, San Sebastián, Spain
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No