Rethinking Seizure Care Blog

Possible Genetic Link with SUDEP and Epilepsy

Posted by RSC Diagnostics on Apr 4, 2019

Woman scientist touching DNA molecule image at media screen

For a long time, doctors have been trying to figure out more about sudden unexpected death (SUDEP) in children. Recently, researchers have discovered that there is a potential link between epilepsy and SUDEP-associated SCN1A gene variants and Sudden Infant Death Syndrome (SIDS). This was discovered by CURE grantee, Dr. Annapurna Poduri, working out of Boston Children’s Hospital.

The research being conducted in this field has the potential to provide greater insight into Sudden Infant Death Syndrome. It could show that there needs to be more genetic evaluation in patients to find epileptic genes in SIDS.

The conducted research looked at 10 infants who passed away due to SIDS. The researchers discovered that two of the infants who died did have disease-associated variance in the SCN1a gene. The children did not have any history of seizures or epilepsy. However, they did have other markers that are commonly associated with temporal lobe epilepsy. This includes hippocampal lesions.

Types of Death in Children

To be honest, SIDS is still very much a mystery. SIDS happens when a baby that is seemingly healthy passes away. While there are several different categories for this type of death, there is still no known definitive cause. The categories include: SIDS, occurring in a child less than one year old; Sudden Unexplained Death in Childhood (SUDC), occurring in a child greater than a year old; SUDEP, occurring when the child dies suffering from epilepsy too. There is another category, which includes SIDS and SUDC, called Sudden Unexplained Death in Pediatrics.

For a long time, childhood deaths such as these were thought of as “separate entities.”  The causes behind them were simply not known. Thanks to the work that Dr. Poduri has done, along with her associates, there is a better understanding of the potential genetic issues that could be behind sudden death in children. Research they’ve done has also suggested that genes could play a more important role when it comes to cases of sudden death in children.

In addition to the work that the research has shown by finding variance in the SCN1A gene in two patients who died of SIDS, they were able to find “variants in the epilepsy-related SCN1B gene” in two patients, who were siblings, that passed away unexpectedly. This has helped to highlight more epilepsy-related genes that could play a role in the cause of sudden death in certain children. Also, this helps to support the idea of these researchers that there is a shared mechanism with epilepsy, SIDS and SUDC.

These types of deaths are considered to be rare. However, the truth of the matter is that there are more deaths that fall into the SIDS and SUDC categories than deaths associated with childhood heart disease or childhood cancer. Given this fact, it is very important to learn more about what exactly is causing these types of deaths, so that they can be prevented.

What Can be Done?

The goal of the research team is to continue their work and analysis of “potential epilepsy-associated genetic variants, which may contribute to sudden childhood death, to better understand the causes of these devastating occurrences.” They hope that their findings can be applied to children with and without epilepsy that could be at risk for sudden death. They also hope to find means to identify children who may be at risk for sudden death.

The research is still in very early stages, but the discovery of certain genetic links does prove to be promising.


Topics: SUDEP, Research Epilepsy

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