Australian infant receives world-first treatment for rare epilepsy

An eight-month-old boy in Australia has become the first person in the world to receive a breakthrough treatment for KCNT1-related catastrophic epilepsy. The rare and often-fatal condition can cause infants to suffer up to 60 seizures per day.

Under the NSW Government’s Innovative Therapies Pathway, the infant received precision medication to target the genetic cause of the condition and prevent overactive brain currents from triggering seizures. The treatment, which had previously only been trialed in adults, was led by pediatric neurologist Dr. Kavitha Kothur at The Children’s Hospital at Westmead.

Following the administration of the medication, the child’s seizures stopped within days, allowing him to return home and reducing the need for around-the-clock care.