Epilepsy in Aicardi-Goutieres syndrome


Ramantani G., Maillard L. G., Bast T., Husain R. A., Niggemann P., Kohlhase J., ...More

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.1, pp.30-37, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.1016/j.ejpn.2013.07.005
  • Journal Name: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.30-37
  • Keywords: Aicardi-Goutieres syndrome, Epilepsy, Leukoencephalopathy, Dystonia, Spasms, Status epilepticus, LUPUS-ERYTHEMATOSUS, EXONUCLEASE TREX1, MUTATIONS, SAMHD1
  • Gazi University Affiliated: Yes

Abstract

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.