8 May 2020

The genetics of epilepsy plays a greater role than previously thought

Review paper: Genetics plays a greater
role in epilepsy than previously thought
Associate Professor Piero Perucca is lead author on a review paper, "The genetics of epilepsy", published this week.

Quoting from the review, "Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable.

"Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated.

"Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled."

Professor Terry O'Brien is an expert in the field. He said, "This is a masterpiece review of the state-of-the-field in Epilepsy Genetics. Congratulations to Piero and his co-authors."

Perucca P, Bahlo M, Berkovic SF. The genetics of epilepsy. Annu. Rev. Genom. Hum. Genet. 2020. 21:16.1–16.26

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