Quantitative EEG biomarkers for STXBP1-related disorders

Area of Science:

• Neuroscience
• Genetics
• Epileptology

Background:

• Monogenic epilepsies, including STXBP1 developmental and epileptic encephalopathy (STXBP1-DEE), have limited exploration regarding EEG patterns and quantitative EEG (qEEG) features.
• Understanding these patterns is crucial for diagnosing and managing these complex neurological disorders.

Purpose of the Study:

• To investigate regional differences in EEG frequency composition in patients with STXBP1-DEE.
• To identify specific qEEG biomarkers associated with STXBP1-DEE.

Main Methods:

• A retrospective study analyzed electroclinical data from 19 STXBP1-DEE patients and control groups.
• Methods included visual EEG assessment, qEEG analysis of relative power in four frequency bands (anterior/posterior), and electrical source imaging (ESI).

Main Results:

• STXBP1-DEE patients exhibited significantly higher delta relative power (δRP) compared to controls, indicating STXBP1-specificity.
• Increased anterior δRP was observed in STXBP1-DEE patients, localized to the dorsomesial frontal cortex.
• Two patient clusters emerged: one with higher anterior δRP and low dynamics, associated with a more severe phenotype.

Conclusions:

• qEEG analysis revealed predominant frontal slow activity as a specific feature of STXBP1-DEE.
• This frontal slow activity correlates with epilepsy severity and may serve as a potential biomarker for future longitudinal studies.