Article
Epilepsy in Aicardi-Goutières syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2014
Ramantani Georgia, Maillard Louis G, Bast Thomas, Husain Ralf A, Niggemann Pascal, Kohlhase Jürgen, Hertzberg Christoph, Ungerath Kristina, Innes Micheil A, Walkenhorst Hartmut, Bevot Andrea, von Stülpnagel Celina, Thomas Kara, Niemann Frank, Ergun Mehmet Ali, Tacke Uta, Häusler Martin, Ikonomidou Chrysanthy, Korinthenberg Rudolf, Lee-Kirsch Min Ae
Abstract excerpt
BACKGROUND: Aicardi-Goutières 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...
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