Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.
Gaetano Maria Celardo, Matilde Neri, Gemma Marinella et al.
✦ AI-curated · Sources linked
Case in brief
A patient with AUTS2-related syndrome presented with epilepsy characterized by developmental/epileptic encephalopathy and spike-wave activation during sleep. The case emphasizes the need for thorough electroclinical evaluation to understand the epilepsy's features and outcomes better. Systematic EEG and cognitive monitoring were recommended to enhance clinical management.
Diagnostic / clinical pearl
Clinicians should recognize that epilepsy in AUTS2-related syndrome can present as developmental/epileptic encephalopathy with specific electroclinical features.
Why it matters
This case underscores the necessity for comprehensive monitoring of electroclinical features in patients with AUTS2-related syndrome to optimize management strategies.