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

Dervent, A; Gibson, KM; Pearl, PL; Salomons, GS; Jakobs, C; Yalcinkaya, Cengiz

doi:10.1016/j.clinph.2004.01.002

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

Atıf İçin Kopyala

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

CLINICAL NEUROPHYSIOLOGY, cilt.115, sa.6, ss.1417-1422, 2004 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 115 Sayı: 6
Basım Tarihi: 2004
Doi Numarası: 10.1016/j.clinph.2004.01.002
Dergi Adı: CLINICAL NEUROPHYSIOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1417-1422
İstanbul Üniversitesi Adresli: Evet

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.