New Genetic Variants Found in Epilepsy Among Pashtun Families

Source: Molecular biology reports

Summary

This study focused on families from the Pashtun population in Pakistan who have cases of epilepsy that had not been thoroughly examined at the genetic level. Researchers aimed to identify specific genetic changes, or variants, that might be causing epilepsy in these families. They used a method called whole exome sequencing, which looks at all the genes in a person's DNA, and combined this with clinical evaluations, including medical history, physical exams, and brain scans.

The researchers discovered two new genetic variants linked to epilepsy in two different families. In one family, they found a variant in the CLN5 gene associated with generalized myoclonic epilepsy and other issues like vision problems and developmental delays. In another family, a variant in the ITPA gene was linked to a severe form of epilepsy called Developmental and Epileptic Encephalopathy 35, along with other features like craniosynostosis, which is a condition affecting skull shape. Both cases showed that the seizures were hard to control with medication.

These findings are important because they provide new insights into the genetic causes of epilepsy in a population that has not been well studied before. They highlight the value of genetic testing in understanding epilepsy, especially in communities where such testing is not common. However, the study is limited to a specific population, so more research is needed to see if these findings apply to other groups.

Original source