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

Date
2004
Author
Pearl, PL
Salomons, GS
Dervent, A
Gibson, KM
Yalcinkaya, Cengiz
Jakobs, C
Metadata
Show full item record
Abstract
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.
URI
http://hdl.handle.net/20.500.12627/106719
https://doi.org/10.1016/j.clinph.2004.01.002
Collections