Targeted phenotype/gene/disorder under study:
OMIM #616127 or #616120 / ORPHA # 453521
Abstract
Biallelic pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. We have previously reported 4 new cases and are looking for more patients.
We want to collect cross-sectional and longitudinal clinical data from patients with biallelic CWF19L1 variants to establish a database of high-quality genetic and clinical data sets.
Coordinating clinician
Allan Bayat – abaya@filadelfia.dk or bayabayabayat@hotmail.com
Institution
Department of Pediatrics, Danish Epilepsy Centre, Filadelfia
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: Yes
4- If available: raw EEG data (EDF) and 3D-T1-MRI sequences (DICOM)