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Developmental epilepsy is a group of neurodevelopmental disorders that is mainly characterized by the onset of different types of seizures, developmental delays, and electroencephalogram (EEG) changes at a young age. Because it can describe a variety of syndromes, symptoms and specific causes may vary between affected individuals. Previous research has examined sex differences within affected adult populations but research examining sex differences for developmental epilepsy is lacking.
The objective of this research is to determine the frequency of each sex within a population of mice that died prematurely from developmental epilepsy due to mutations of the GABAA receptor α2 subunit.
To determine the frequency of each sex, we extracted DNA from the tails of pups that died prematurely. We determined their sex by running PCR to amplify the sex-determining region on the Y chromosome (SRY). PCR products were separated by agarose gel electrophoresis. Males are identified by the presence of two bands of 300 and 350 base pairs (bp) while females are identified by one single band of 350 bp.
Current research provides evidence that males are at higher risk for sudden unexplained death in epilepsy (SUDEP). The current study aims to examine whether males are at higher risk in our model of developmental epilepsy. Future research can provide additional insight into the mechanisms that lead to differences in SUDEP risk.
Developmental epilepsy; SRY Sex Determination; GABAA receptor α2 subunit mutations; Sudden Unexplained Death in Epilepsy (SUDEP)
Garcia-Trujillo, Betsua; Hines, Dustin Ph.D.; Barker, Jeffrey; and Hines, Rochelle Ph.D., "Frequency of Each Sex Affected by Sudden Unexplained Deaths due to Developmental Epilepsy" (2021). Undergraduate Research Symposium Posters. 39.