Overview
The key endpoint for this prospective cohort study is:
Mapping of the disease course of all known patients (both children and adults, international) with a CAMK2 mutation, for which ENCORE has founded an expert clinic, and therefore has a substantial and active neuroscientific research arm combined with tertiary academic clinical care delivery for those living in the Netherlands.
Such robust clinical maps can subsequently be used for genotype-phenotype correlations and, identify clinically relevant outcome measures for prognostication, improvement of care delivery \& future clinical trials. Additionally, it will most likely generate new research questions for basic scientists who are trying to unravel the specific mechanisms of disease pathophysiology.
Eligibility
Inclusion Criteria:
- Subject with a (likely) pathogenic variation in one of the CAMK2 genes
- Consent for anonymous registration in an (inter)national database
Exclusion Criteria:
\- Subjects with a Variant of Unknown Significance (VUS); in those cases functional analysis should be performed first.