The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings

ObjectiveAlthough epileptic seizures occur in approximately a quarter of patients with Aicardi-Goutières syndrome (AGS), their phenotypic and electrophysiological characterization remains elusive. The aim our study was to characterize epilepsy phenotypes electroencephalographic (EEG) patterns AGS look for possible correlations clinical, genetic neuroradiological features.MethodsWe selected an established diagnosis followed at three Italian reference centers. Medical records, EEGs MRI/CT findings were reviewed. independently blindly reviewed by board-certified pediatric epileptologists. Chi square Fisher’s exact tests used test associations between EEG feature categories radiological variables.ResultsTwenty-seven enrolled. We 63 least one brain MRI scan per patient. Epilepsy, mainly the form spasms focal seizures, present 37 % cohort; mean age onset 9.5 months (range 1–36). presence associated calcification severity (p = 0.016) startle reactions 0.05). Organization electrical activity appeared be disrupted or markedly 73 cases. Severe disorganization correlated microcephaly < 0.001) highly abnormal T2-weighted signal intensity white matter 0.022).Physiological organization found better preserved during sleep (87 %) than wakefulness (38 %). Focal slow recorded more third Fast activity, either diffuse frontal location, frequent awake state (78 (50 Interictal epileptiform discharges (IEDs) 33 45 recordings. IEDs higher risk 0.008).SignificanceThe hallmarks recordings be: disruption organization, fast IEDs, both those without epilepsy. pattern finding T2 suggest common anatomical correlate. However, complex anatomical-electroclinical basis AGS-related still requires further elucidation.