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Focal epilepsy

Melbourne Genomics' first clinical projects provided genomic sequencing to 315 patients of The Royal Melbourne Hospital and The Royal Children's Hospital. Our key findings for the Focal epilepsy project were:

Adults (n=28), adolescents and children (n=12) with seizures affecting one side of the brain, unrelated to brain injury or damage.

Diagnosis achieved in 12% of patients; none diagnosed through usual care.

Among diagnosed patients’ relatives, 9 individuals identified with the same epilepsy-causing genetic variant.

Patient Ryan’s genomic result (see highlight story) led to the cancelling of major brain surgery and complete cessation of his severe seizures.