Gene under study
VAMP2 (OMIM 185881)
Abstract
Our study uses cell and animal models to investigate the disease mechanisms underlying a rare SNAREopathy, which presents as a neurodevelopmental disorder with hypotonia, with or without epilepsy. We are seeking genetic and detailed phenotype information to capture the full clinical spectrum for this condition and understand genotype-phenotype correlation.
Coordinating clinician & contact email
Prof Henry Houlden – l.mckay-dalton@ucl.ac.uk
Institution
Department of Neuromuscular diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG
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