Registry and Natural History of Epilepsy-Dyskinesia Syndromes

Can be acquired such as hypoxic-ischemic injury, autoimmune encephalitis, or CNS infections
Commonly applied to monogenic diseases (>100 associated genes) mapping to diverse neurobiological pathways

Movement disorders account for significant morbidity
Milder phenotypes may present with movement disorders only
Synergies of medications for movement disorders and epilepsy remain largely unexplored
There is a growing list of disease-specific gene-based therapies

Study Overview

Determine the natural history and genotype-phenotype correlations of disease-causing variants of epilepsy-dyskinesia syndromes.
Establish a biobank for patients with a pathogenic or likely pathogenic variant in one of the genes of interest and the presence of a childhood-onset movement disorder, enabling quantitative profiling of biochemical biomarkers.
Facilitate an early diagnosis, enable counseling with anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits.

Participants must be between the ages of 0 to 30 years at time of enrollment
Must have at least one pathogenic or likely pathogenic variant in one of the genes of interest