Ontology highlight
ABSTRACT:
SUBMITTER: Parviz M
PROVIDER: S-EPMC4256671 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Journal of pediatric epilepsy 20141101 4
Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsenin ...[more]