Synopsis
A recent global study reveals that certain common genetic variants may clarify why some individuals with focal epilepsy exhibit reduced responsiveness to seizure medications, highlighting the need for improved genetic testing.Key Takeaways
- Genetic variants in CNIH3 and WDR26 linked to drug resistance.
- Focal epilepsy is the most prevalent epilepsy type.
- One in three epilepsy patients experience medication ineffectiveness.
- Identification of genetic markers at epilepsy onset is crucial.
- Research suggests the need for expanded genetic testing.
New Delhi, April 16 (NationPress) Certain common genetic alterations may elucidate why certain individuals with focal epilepsy exhibit reduced responsiveness to seizure treatments, according to a recent global investigation.
Focal epilepsy is characterized by seizures originating from a specific brain region, representing the most prevalent form of epilepsy.
Typically, antiseizure medications are administered to those with this condition. However, around one in three epilepsy patients (approximately 20 million globally) find that existing medications do not work effectively. This condition is termed drug resistance.
Such resistance entails additional serious health complications, including an increased risk of sudden unexpected death in epilepsy and significantly escalated healthcare expenses.
Researchers from University College London in the UK and University of Texas-Health Houston in the US have identified specific common genetic variants within two genes: CNIH3, which regulates the function of certain brain receptors, and WDR26, which plays a role in various cellular processes.
The study, published in the journal EBioMedicine, demonstrated that individuals possessing genetic variants in CNIH3 and WDR26 face an elevated risk of drug resistance in focal epilepsy. These variants also influence a patient’s response to antiseizure treatments.
“Our research provides new understanding regarding why some individuals experience seizures that resist current antiseizure therapies,” stated Professor Sanjay Sisodiya from UCL’s Queen Square Institute of Neurology.
“Identifying these genetic variants, prevalent in the general population yet significantly affecting treatment outcomes, highlights the necessity for enhanced genetic testing and future therapies targeting polygenic epilepsy (a type of epilepsy influenced by multiple genes),” added Costin Leu, Assistant Professor at UTHealth Houston.
For their study, the researchers analyzed data from 6,826 epilepsy patients.
They contrasted the genomes of those with drug-resistant epilepsy (4,208 individuals) against those whose seizures were effectively managed with antiseizure medications (2,618 individuals).
These findings are particularly significant as these genetic markers can be identified at the onset of epilepsy, rather than after multiple ineffective treatments have been attempted.
This could potentially assist in forecasting which epilepsy patients are at risk of developing drug resistance, thereby sparing them from unnecessary exposure to ineffective medications and their related side effects, the team concluded.
