EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, sa.1, ss.30-37, 2014 (SCI-Expanded)
Background: Aicardi-Goutieres syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epileptic seizures, progressive microcephaly, and severe developmental delay. The aim of our study was the characterization of epilepsy, one of the most frequent and severe AGS manifestations, in molecularly confirmed patients.