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Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review
Gaetano Maria Celardo1, Matilde Neri1, Gemma Marinella2
1Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Purpose:
Pathogenic variants in AUTS2 are associated with neurodevelopmental disorders, commonly characterized by intellectual disability and autism spectrum disorder. Epilepsy in AUTS2-related syndromes has been reported only in a limited number of patients, usually with scant information on the electroclinical features and longitudinal outcome.
Methods:
We report a proband with AUTS2-related syndrome and performed a narrative literature review.
Results:
The electroclinical features of our case fall within the spectrum of a developmental/epileptic encephalopathy with spike-wave activation in sleep.
Conclusions:
This case highlights the importance of a detailed electroclinical characterization of epilepsy in AUTS2-related syndrome and underscores the need for systematic EEG and cognitive monitoring to improve clinical management.
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