Epilepsy in AicardieGoutieres syndrome
2014
Background: AicardieGoutieres 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 develop- mental delay. The aim of our study was the characterization of epilepsy, one of the most frequent and severe AGS manifestations, in molecularly confirmed patients. Methods: We reviewed the medical records, EEG, and CT/MRI findings in 16 patients aged 1e22 years that carried AGS1-5 mutations.
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