Academics

Summary

Epilepsy and Autism Spectrum Disorders (ASDs) are distinct disorders that share a few common contributing factors; one such factor is the SCN2A gene. Individuals who experience these diseases often have symptoms that relate to specific types of mutations that occur within this gene, such as intellectual disability in autism and a high frequency of seizures in epilepsy. The SCN2A gene is responsible for the voltage-gated sodium channel (VGSC) pathway which is a pathway integral in early brain development. One of the key pathways in the sodium channel is the NaV1.2 protein pathway. Mutations in this protein are especially associated with ASD and epilepsy. Researchers have studied mutations that occur within the SCN2A gene that can trigger malfunctions; these mutations can cause either increased (gain-of-function) or decreased (loss-of-function) function in the sodium channel. Increased function leads to the sodium channel being inappropriately open while decreased function leads to it being inappropriately closed. Although the impact SCN2A mutations have on epilepsy and ASD is well-studied, there are still some significant areas that need more research. One such gap in knowledge that can assist in understanding the SNC2A gene is the lack of understanding of the exact relationship between sodium permeability of the sodium channel and the location of the mutation in the gene. Another area to study is the relationship that specific mutations, such as R927C, have on sodium selectivity. The last area of focus deals with the variety of treatment options. There are two main potential treatments, non-sodium channel blockers and sodium channel blockers. Right now, the best time in development to apply non-sodium inhibiting drugs is not known, so determining the exact time in development that these drugs have the best effect is important. On the other hand, the exact effect that sodium channel blockers have on the sodium channel is still not known and further research is necessary to establish a comparison to normal functioning channels. By comparing these various aspects of the SNC2A gene, researchers will be able to better understand how to better assist in treatment for individuals that suffer from ASD and Epilepsy 

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