A research team at Samsung Medical Center has found that the younger the patients age, the higher the probability of finding the causative gene of infant epilepsy.

Epilepsy is a neurological disease caused by a variety of causes. However, it is difficult to find the cause of the outbreak, and hospitals conduct various tests and treatment methods to customize treatment for each patient. In some cases, patients develop epilepsy at a very young age, despite their brain MRI test results coming back normal. There remain high unmet needs for a diagnosis to establish the cause.

To resolve the issue, the team, led by Professors Lee Ji-won and Lee Ji-hoon, conducted a genetic panel test using next-generation sequencing on 116 patients under two years of age diagnosed with epilepsy despite having a normal brain MRI.

As a result of the study, the probability of finding the cause gene through genetic panel examination was 34.5 percent for patients under two years of age, 39.6 percent for those under one year old, and 50 percent for babies under six months old.

Until now, it was common for patients, who had epilepsy despite having a normal brain MRI, to receive antiepileptic drugs, the team said. Based on the results of this study, however, we think we have paved the way for selecting an appropriate drug according to the mutation of the causal gene.

In an additional study involving 13 benign rolandic epilepsy patients, the researchers could also diagnose the patients early and quickly provide optimal drugs, it added.

Although more than 50 percent of patients have yet to find the cause of their disease, the team expects to find more causal genes through the ongoing familial genome research, Professor Lee Ji-won said. To establish effective customized treatments, research is underway to produce a cell model that expresses the phenotype of a patient whose causative gene has been identified and screen the therapeutic agent.

Professor Lee Ji-hoon also said, Identifying the genes that cause epilepsy through the diagnostic capabilities of pediatrics clinicians can be a crucial aid in selecting therapeutic drugs, allowing doctors to predict to some extent what prognosis the young patients will show as they grow up.

Molecular Genetics & Genomic Medicine has published the results of the study.

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'The younger the child, the likelier to find causative gene of infant epilepsy' - Korea Biomedical Review - Korea Biomedical Review