The Presence and Severity of Epilepsy Coincide with Reduced GABA and Cortical Excitatory Markers in SSADH Deficiency.
Itay Tokatly LatzerMariarita BertoldiMelissa L DiBaccoErland ArningMelissa TsuboyamaPaul MacMullinDaniyal SacheeAlexander RotenbergHenry H C LeeDeniz AygunThomas OpladenKathrin JeltschÀngels García-CazorlaJean-Baptiste RoulletK Michael GibsonPhillip L PearlPublished in: Epilepsia (2023)
Epilepsy is highly prevalent in SSADHD, and its onset and severity correlate with an age-related decline in GABA and GABA-related metabolite levels as well as TMS markers of reduced cortical inhibition. The reduction of GABAergic activity in this otherwise hyperGABAergic disorder demonstrates a concordance between epileptogenesis and compensatory responses. These findings may furthermore inform the timing of molecular interventions for SSADHD.