Targeted gene under study:
ELFN1 deficiency, OMIM: 614964
Abstract
A single biallelic variant in synaptic cell adhesion molecule ELFN1 has been reported in a family affected by epileptic encephalopathy and a different biallelic variant was found in patients with intellectual disability.
We have collected 5 additional families with homozygous ELFN1 variants associated with intellectual disability and epilepsy. We are looking to identify any additional patients with ELFN1 variants and a neurodevelopmental and/or epileptic phenotype. Additionally, we have established collaborations to explore functional interpretation of uncertain variants within this gene.
Coordinating team
Dr Rhys Dore (academic clinical fellow in clinical genetics) – rhys.dore.20@ucl.ac.uk
Dr Reza Maroofian (geneticist) – r.maroofian@ucl.ac.uk
Institution
Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, United Kingdom
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