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Uncover the underlying cause of the seizure. Paediatric epilepsies may be masking a neurodegenerative disease2
- Some rapidly progressive neurodegenerative disorders present with subtle and non-specific symptoms, mimicking those observed in more common paediatric epilepsies. 7
- Neuronal ceroid lipofuscinosis type 2 (CLN2 disease/TPP1 deficiency) is one devastating genetic condition that often presents with new-onset unprovoked seizures between 2-4 years of age and/or language delay and/or motor disturbance/ataxia.5,3
- Genetic testing can help identify the aetiology of 100+ paediatric epilepsies with one test^. 4
- Many genes are actionable: A prompt diagnosis can be essential to adopt precise disease management strategies.6,7
- If you have patients with seizures of unknown cause, no-cost genetic testing may be available in your country.7