GABA. Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter of the central nervous system. The main function of GABA is to reduce the excitability of neurons, which is the opposite of the excitatory glutamate that we described more extensively on our blog when talking about GRIN– and GRIA-related disorders. Many variants in GABA receptors are linked to epilepsy. Here, we will dive specifically into the genetics of the GABAA receptor.
Tag Archives: advocacy
Epilepsy Genetics Spycraft, UGDH, and Mardi Gras
The gene on your hand. We should never apologize for telling people about genetic epilepsies, we should apologize for not telling people enough about it. At the 2024 Mardi Gras celebration of the Epilepsy Foundation of Eastern Pennsylvania, I had the honor of being given the Charley and Peggy Roach Founders’ & Eric Burton Osberg Award, also known as “Philadelphia Epilepsy Medical Professional of the Year”. I am quite sure that there must have been a data entry error or that the selection committee slipped in the line when they made this decision. Many of our epilepsy nurses, nurse practitioners, EEG techs, researchers, and physicians caring for people with epilepsy in Eastern PA would have been much more eligible for this honor than myself. However, given this unlikely opportunity, I used my moment on the stage to highlight our team and dedicate this award to Connor Maule, one of my patients who passed away from a rare genetic epilepsy in 2021. To honor Connor and epilepsy patients alike, I asked the audience to take a gene home with them – signing their hands with a gene name using a sharpie.
Neurogenetics, neurodiversity, and self-advocacy – the stuttering perspective
Perspective. This blog post is about a topic that I had planned to write about for a while – the intersection of neurogenetics and self-advocacy. This is a potentially loaded topic in many disease areas, and I had held off on writing this for a while. However, when I put together my prior blog post on the different perspectives on stuttering, it occurred to me that I could use stuttering genetics as a vehicle to get these thoughts across. Stuttering genetics is relatively underdeveloped, and I feel that I can speak to the intersection of self-advocacy and genetic research as pediatric neurologist involved in neurogenetics research and as a person who stutters. However, this post is not only about stuttering, it is about how neurogenetics and self-advocacy may be synergistic, adding nuance to both perspectives.
