Aussie is one of seven in world with rare epilepsy

Queensland researchers have led an international effort to uncover the gene behind a young Brisbane boy’s rare developmental condition, a discovery his family hopes will pave the way for future treatments.

Seth De Rooy, 11 (pictured), is one of only seven people in the world diagnosed with Temple-Baraitser syndrome (TBS), which causes severe epilepsy, intellectual disability, low muscle tone and missing nails on the thumbs and big toes.

In their search for answers, researchers from the University of Queensland teamed up with colleagues from