First study on EEG analysis of STXBP1 syndrome published

January 17, 2022

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The VU-VUmc STXBP1 team, together with their collaborators, have published a new study on quantitative EEG analysis for STXBP1 syndrome patients. The study is published in the journal Frontiers of Physiology.

EEG measures brain activity and it is routinely used in the clinic, for example to detect epileptic activity. In this new study, we have used EEG recordings for in-depth, quantitative analysis of brain activity patterns during the ‘resting state’, which is the brain activity recorded while a participant is sitting still and not performing any tasks. EEGs were recorded at multiple locations: in Amsterdam, the Netherlands; in Genova, Italy; and in Dianalund, Denmark.
Brain activity of STXBP1 syndrome patients differed in several ways from control children. The changes that were observed indicate that the balance between excitation and inhibition is shifted towards relatively more inhibition in STXBP1 syndrome. Previous research, in animal models and in cultured cells, have suggested that excitatory and inhibitory neurons may function differently in STXBP1 syndrome. This study provides the first evidence that a change in E/I balance can be observed directly in the brain activity of STXBP1 syndrome patients.
The findings in this study give an important new insight into the consequences of STXBP1 variants. Combining EEG insights with data from molecular and cellular studies will help to understand the brain mechanisms that are changed in STXBP1 syndrome patients. In the future, quantitative EEG measurements may be used as a clinical biomarker to improve diagnosis and to measure efficacy of potential treatment options.

The paper was published on December 23rd 2021 and is available here.