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Inflammation in genetic epilepsy

Jan. 21, 2021, 11:00 AM

by Leigh MacMillan

Brain inflammation plays a role in human epilepsy, but most studies have focused on acquired epilepsies, such as those due to head trauma, viral infection or other insults. Neuroinflammation has never been reported in genetic epilepsy associated with ion channel gene mutations. 

Jing-Qiong (Katty) Kang, MD, PhD, and colleagues previously characterized how mutations in the gene encoding a GABA-A receptor subunit — part of an ion channel that blunts excitatory signaling — contribute to epileptogenesis in mouse models. 

They now report in the journal Epilepsia that mice with a particular GABA-A receptor subunit mutation (a model for the genetic epilepsy Dravet syndrome) have increased levels of proinflammatory factors in the brain, but not in the plasma. They found increased neuroinflammation in multiple brain regions and throughout different developmental stages and showed that it was independent of seizure occurrence. 

This evidence provides a new clue for understanding epileptogenesis and a critical bridge between genetic epilepsy and acquired epilepsy. 

The findings support neuroinflammation as a mechanistic link between genetic and acquired epilepsy and suggest that anti-inflammatory treatments might be beneficial for some forms of genetic epilepsy.

This research was supported by grants from Citizens United for Research in EpilepsyDravet Syndrome Foundation, Vanderbilt Brain Institute, and National Institutes of Health (NS082635, TR002243). 

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