Building a strong medical team is essential. Below is a checklist of common recommended baseline tests to discuss with your geneticist or neurologist.
A baseline brain MRI is often recommended to look for structural changes in the brain that might explain certain neurological symptoms.
An EEG measures electrical activity in the brain. It is crucial for detecting seizures or abnormal brain wave patterns, which can occur in CLTC-ID.
If a variant is found via a gene panel or exome sequencing, Sanger sequencing of the parents is usually recommended to confirm if the variant is 'de novo' (new) or inherited.
Finding the right specialists can be one of the hardest parts of navigating a rare diagnosis. Our community has put together a directory of recommended geneticists, neurologists, and developmental pediatricians — organised by country — so you can find experienced clinicians near you.