Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathies

Key Points

• Distinct clinical severity dimensions correspond with normative quantitative EEG metrics and track disorder progression effectively.
• Association features show promise in identifying therapeutic response based on quantitative EEG deviations illustrating clinical profiles.
• Analysis of normative metrics reveals how functional aspects of EEG relate to the severity of neurodevelopmental phenotypes within SNAREopathies.
• Support for efficacy in monitoring therapeutic outcomes highlights the potential for improved clinical management of SNAREopathies.

Abstract