salt

Epilepsy (ILAEC, 2014)

STUDY TITLE: Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

SUMMARY: Genetic variants in the SCN1A and PCDH7 genes may influence the risk of epilepsy.

DESCRIPTION: Epilepsy is a condition that causes unpredictable seizures and other health problems. This study looked at patients with general as well as specific types of epilepsy (focal and unclassified) to determine which genetic variants are linked to the disease. After examining 34,853 individuals of European, Asian, or African ancestry, the most significant variants were identified as being located in the SCN1A and PCDH7 genes. SCN1A encodes for a subunit of voltage-dependent sodium channels. These membrane proteins allow sodium to flow into the cell, which is essential for the activity of muscle cells and neurons. The PCDH7 gene encodes a protein that is thought to play a role in cell-cell recognition and adhesion.

DID YOU KNOW? To reduce your risk of developing epilepsy, try to prevent traumatic brain injuries, get vaccinated, and lower your chances of stroke and heart disease by eating healthily and exercising regularly. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

Epilepsy sample results.

EPILEPSY-ASSOCIATED VARIANTS: rs6732655, rs28498976, rs2947349, rs1939012

ADDITIONAL RESOURCES:
What is Epilepsy?
Voltage-Gated Ion Channel
Sodium Channel
The Nervous System, Part 2 – Action! Potential!

WEEKLY UPDATE: July 23, 2019


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