GABRA1 Related Epilepsy
By: Sofia Arreguin GABRA1 Related Epilepsy What is GABRA1? Gamma-aminobutyric acid, or GABA, is known to be an inhibitory neurotransmitter within the brain that often responds or binds to one of its subtypes, the GABAA receptor. This causes the formation of a hole, which the GABRA1 gene plays a significant role in producing, allowing the […]
Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
By: Catherine Joachin Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) What is MERRF? Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare condition of the central nervous system caused by genetic mutations in the mitochondrial genetic material (mtDNA) (National Organization for Rare Disorders, 2021). MERRF can result from various maternally inherited pathogenic mtDNA variants, including the […]
The Link Between Suicidality and Epilepsy
By: Stefania Pierce The Link Between Suicidality and Epilepsy The symptoms of epilepsy extend far beyond its defining feature of recurrent seizures. It is a condition that can profoundly shape emotional well-being, social functioning, and quality of life. While medical advances have improved seizure control, the psychological and social consequences of epilepsy are still often […]
GATOR1 Complex and Epilepsy
By: Clare Logan GATOR1 Complex and Epilepsy What is the GATOR1 Gene? The GATOR1 complex is made up of three genes (DEPDC5, NPRL2, and NPRL3) that work together to control how brain cells grow and communicate. These three genes make proteins that act as a “brake” for a key signaling system in our cells known […]