Targeted gene under study:
RELN (OMIM #600514)
Abstract
Biallelic variants in the RELN gene are known to be associated with a phenotype characterized by neurodevelopmental impairment and malformations or morphological alterations of the central nervous system (CNS). There are some reports that associate monoallelic variants to a familial form of temporal epilepsy Recently, a potential role of monoallelic variants has been hypothesized in individuals presenting solely with neurodevelopmental disorders without CNS morphological anomalies. We aim to gather information from as many affected individuals as possible to provide a more detailed phenotypic characterization of this condition.
Coordinating team
dott. Federico Rondot MD – federico.rondot@unito.it
prof. Alessandro Mussa MD PhD – alessandro.mussa@unito.it
Institution
Città della Salute e della Scienza di Torino, Ospedale Regina Margerita, Torino
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