Gene/phenotype/disorder under study
PRRT2 (MIM* 614386)/PRRT2-related disorders
Abstract
Since the first descriptions of (likely) pathogenic monoallelic PRRT2 variants, different phenotypes have been described. Following the initial identification of episodic kinesigenic dyskinesia, additional clinical presentations -such as benign infantile familial seizures, episodic ataxia, non-kinesigenic dyskinesia, and familial hemiplegic migraine- have been reported.
However, phenotypes associated with biallelic PRRT2 variants have been less frequently reported in the literature. Individuals described appear to differ in terms of severity and clinical features. They may present with developmental delay and/or epilepsy, which tends to be more severe and occurs more frequently with an earlier onset.
This work aims to describe a cohort of individuals with likely pathogenic or pathogenic biallelic PRRT2 variants in order to further delineate the associated molecular and clinical spectrum.
Coordinating clinicians
Quentin THOMAS (MD-PhD) – quentin.thomas@chu-dijon.fr
Marlène MALBOS (MD) – marlene.malbos@chu-dijon.fr
Institution
University of Burgundy Europe, Dijon Burgundy University Hospital, Medical Genomics Laboratory/Genetics department, Translational Research Centre in Molecular Medicine, GAD Team, Dijon, France
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