Gene/phenotype/disorder under study
OMIM #605104
Abstract
Exonic microdeletions of RBFOX1 are a recognized risk factor for epilepsy and neurodevelopmental diseases. In the last years, one patient with ASD carrying a de novo stop-gain variant and seven patients with neurodevelopmental diseases and/or epilepsy carrying a missense variant (6/7 de novo) have been reported. We are now looking for patients with neurodevelopmental issues and/or epilepsy carrying a single nucleotide variant in the gene RBFOX1 in order to accurately delineate the genetic and clinical features for this rare disease.
Coordinating clinicians
Allan Bayat
Vidal Yahya – vidal.yahya@unimi.it
Institution
Department of Neurology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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)