A global study has identified genes that drive epilepsy risk.

A study involving nearly 21,000 individuals diagnosed with epilepsy has identified seven specific genes, three gene sets, and four gene variants linked to the condition. 

The research, which featured input from Australian scientists, is the largest whole-exome sequencing study of epilepsy conducted to date.

The researchers conducted exome sequencing on 20,979 individuals with epilepsy, comparing their genetic data with that of 33,444 controls. 

Exome sequencing focuses on the parts of genes that contain the instructions for building proteins, which are essential for various biological processes. 

The study revealed significant associations between these genetic components and epilepsy, particularly in genes related to brain signalling and neuronal excitability.

“Genes encoding ion channels show strong association with multiple epilepsy subtypes, including epileptic encephalopathies and generalized and focal epilepsies,” the study noted. 

The findings also indicate that most other gene discoveries were specific to certain epilepsy subtypes, suggesting that distinct genetic contributions exist across different forms of the disorder.

A notable aspect of the study is the identification of shared genetic risk factors between epilepsy and other neurodevelopmental disorders. 

This suggests that certain genetic mutations may predispose individuals to multiple conditions, showing the complexity of the genetic architecture underlying epilepsy.

The study authors are making their data available through an interactive browser, hoping the resource will assist in diagnosing epilepsy and promote further research into the condition. 

The full study is accessible here.

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