New genes involved in epilepsy SIK1 and MEF2C

The latest scientific research shows new genes involved in epilepsy.

Dr. Alex Paciorkowski (Assistant Professor of Neurology at the University of Rochester Medical Center) with his team, led an investigation to analyze the genetic profiles of 101 individuals with developmental epilepsy.


They analyzed patients affected by epilepsy seizure. In this group, the scientis included serious  health conditions Early Myoclonic Encephalopathy, Ohtahara Syndrome accompanied by infantile spasms.

However, the study surprised scientists when researchers found a mutation in SIK1, a gene that had not any kind of link with epilepsy. Now, the study published by Dr. Alex Paciorkowski reveals that alterations in SIK1 are the main in the development of abnormal proteins, which finally does not behave correctly in the transmission of the signal favoring seizures.

The study would involve two genes, SIK1 and MEF2C, which would be related. Its alterations may interfere with machinery in neurons, because both are responsible for the correct development of synapses.

The great advances in bioinformatics have enabled the simultaneous study of millions of genetic information, and thus, researchers have been able to achieve the key and final goal of the study.

The result? It is to analyze at the same time, more than 20,000 genes in each of the study subjects, and compare the data with other families.

This type of research shows results today in a few days, through the powerful tool of bioinformatics. However, years ago it would have been inaccessible, for limitation of time and tools.

Thus, molecular genetics is allowing to offer a much more accurate about the various types of epilepsy diagnosis.

Today, one of the most common treatments for epilepsy is the ACTH  hormone (also known as adrenocorticotropic). However, by over 40% of the patients, hormone does not present the expected efficiency, in addition to metabolic risks that it posed.

Now, gene analysis lets know with greater accuracy, which patients may benefit from a specific treatment, in relation to their genetic profile or the specific type of alteration that they have.

The time to deliver drugs in an excessive manner without coherence is in the past. Personalized medicine enables new possibilities for research and allows to change the traditional approach to the classical clinical, towards the specialization of genetic diagnosis.