Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency


Dervent A., Gibson K., Pearl P., Salomons G., Jakobs C., Yalcinkaya C.

CLINICAL NEUROPHYSIOLOGY, cilt.115, ss.1417-1422, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 115 Konu: 6
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.clinph.2004.01.002
  • Dergi Adı: CLINICAL NEUROPHYSIOLOGY
  • Sayfa Sayıları: ss.1417-1422

Özet

Objective: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disorder characterized by excessive GABA levels and seizures. There has been no clinical phenotype described to date with heterozygosity for SSADH deficiency.