Epilepsy is one of the most common serious chronic neurological disorders. On average, one in 100 people suffers from epilepsy worldwide. Since 2004, the Faculty of Medicine at CUHK has been conducting research on the genetics of epilepsy. Working with paediatric and adult neurologists in major hospitals in five Hospital Authority clusters, over 1,800 epilepsy patients have taken part so far, creating one of the largest collections of epilepsy samples in the world.

Recently CUHK Faculty of Medicine and The University of Hong Kong (HKU) Li Ka Shing Faculty of Medicine jointly investigated 1,087 of these patients, comparing with 3,444 people without epilepsy. They found significant differences in the frequencies of certain variants between patients and people without epilepsy. The strongest difference was found in a gene called CAMSAP1L1 which may affect how nerve cells in the brain grow to form connections and networks with each other. Based on the findings, 65% of Hong Kong Chinese carry the high-risk form of this genetic variant, which increases the chance of developing epilepsy by approximately 60%. The study findings have been reported in the authoritative international journal in genetics, Human Molecular Genetics, in November 2011.

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