Pubblicazioni

Autori:

Cossu, Alberto; Furia, Francesca; Proietti, Jacopo; Ancora, Caterina; Reale, Chiara; Darra, Francesca; Previtali, Roberto; Bernardina, Bernardo Dalla; Rubboli, Guido; Beniczky, Sandor; Møller, Rikke S; Cantalupo, Gaetano; Gardella, Elena

Titolo:

Quantitative EEG biomarkers for STXBP1-related disorders

Anno:

2024

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

Epilepsia

ISSN Rivista:

0013-9580

N° Volume:

65

Numero o Fascicolo:

12

Intervallo pagine:

3595-3606

Parole chiave:

STXBP1; biomarker; developmental and epileptic encephalopathy; quantitative EEG; translational neuroscience

Breve descrizione dei contenuti:

Objective: EEG patterns and quantitative EEG (qEEG) features have been poorly explored in monogenic epilepsies. Herein, we investigate regional differences in EEG frequency composition in patients with STXBP1 developmental and epileptic encephalopathy (STXBP1-DEE). Methods: We conducted a retrospective study collecting electroclinical data of patients with STXBP1-DEE and two control groups of patients with DEEs of different etiologies and typically developing individuals matched for age and sex. We performed a (1) visual EEG assessment, (b) qEEG analysis, and (c) electrical source imaging (ESI). We quantified the relative power (RP) of four frequency bands (alpha beta, theta, delta), in two electrode groups (anterior/posterior), and compared their averages and dynamics (standard deviation [SD] over time). The ESI was performed by applying the standard Distributed Source Modeling algorithm. Results: We analyzed 42 EEG studies in 19 patients with STXBP1-DEE (10 female), with a median age at recordings of 9.6 years (range 9 months to 29 years). The delta RP was higher in recordings of STXBP1-DEE (p < .001) compared to both control groups, suggesting the pathogenicity and STXBP1-specificity of these findings. In STXBP1-DEE, the delta RP was significantly higher in the anterior electrode group compared to the posterior one (p = .003). There was no correlation between the anterior delta RP and the epilepsy focus, age at recordings, and concomitant medications The ESI modeling of this activity showed a widespread involvement of the dorsomesial frontal cortex, suggesting a large corticosubcortical pathologic network. Finally, we identified two groups of recordings: cluster.1 with higher anterior delta RP and low dynamics and cluster.2 with lower delta RP and higher dynamics. Patients in cluster.1 had a more severe epilepsy and neurological phenotype compared to patients in cluster 2. Significance: The qEEG analysis showed a predominant frontal slow activity as a specific STXBP1 feature that correlates with the severity of the phenotype and may represent a biomarker for prospective longitudinal studies of STXBP1-DEE.

Id prodotto:

144246

Handle IRIS:

11562/1153895

ultima modifica:

17 aprile 2025

Citazione bibliografica:

Cossu, Alberto; Furia, Francesca; Proietti, Jacopo; Ancora, Caterina; Reale, Chiara; Darra, Francesca; Previtali, Roberto; Bernardina, Bernardo Dalla; Rubboli, Guido; Beniczky, Sandor; Møller, Rikke S; Cantalupo, Gaetano; Gardella, Elena, Quantitative EEG biomarkers for STXBP1-related disorders «Epilepsia» , vol. 65 , n. 12 , 2024 , pp. 3595-3606

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo