Epilepsy in Aicardi-Goutieres syndrome

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

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, sa.1, ss.30-37, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 1
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ejpn.2013.07.005
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.30-37
  • Anahtar Kelimeler: Aicardi-Goutieres syndrome, Epilepsy, Leukoencephalopathy, Dystonia, Spasms, Status epilepticus, LUPUS-ERYTHEMATOSUS, EXONUCLEASE TREX1, MUTATIONS, SAMHD1
  • Gazi Üniversitesi Adresli: Evet

Özet

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.