Gene under study
Gene PRRT2 (OMIM *614386)
Abstract
Heterozygous PRRT2 variants are well-known causes of various paroxysmal disorders, such as paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, hemiplegic migraine, and episodic ataxia (EA). In contrast, the evidence on autosomal recessive PRRT2-related disorders is more limited.
Bi-allelic PRRT2 variants are linked to more severe disease phenotypes compared to the autosomal dominant form and are estimated to account for <1% of cases of PRRT2 related disorder. These more severe phenotypes include non-syndromic intellectual disability, persistent PKD attacks, autism spectrum disorder, attention-deficit hyperactivity disorder, various seizure types, migraine, paroxysmal non-kinesigenic dyskinesia, or EA.
Our goal is to conduct a comprehensive phenotypic analysis and define the natural history of disorders associated with bi-allelic PRRT2 variants in a large, international cohort of patients.
Coordinating clinician
Dr Francesca Magrinelli – f.magrinelli@ucl.ac.uk
Institution
Department of Clinical and Movement Neurosciences, UCL 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: Yes (not mandatory)
2- Resampling of patients: Yes (not mandatory)
3- Linked to a translational/basic research project: No