Abstract
Objective
This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.2DS individuals without epilepsy.
Methods
This multicenter case–control study included 28 patients with 22q11.2DS-related generalized epilepsy and compared their data with 56 age-matched 22q11.2DS controls without epilepsy. Clinical and electroencephalographic features, neuropsychiatric and systemic comorbidities, family history of epilepsy, and genetic findings were collected.
Results
Generalized tonic–clonic seizures and myoclonic seizures were the most common electroclinical presentations, with a broader range ...
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