Journal
JOURNAL OF PEDIATRIC EPILEPSY
Volume 3, Issue 4, Pages 217-227Publisher
GEORG THIEME VERLAG KG
DOI: 10.3233/PEP-14097
Keywords
Neurometabolic diseases; SSADH deficiency; GABA-T deficiency; epileptic encephalopathy
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Funding
- Intramural NIH HHS [Z99 NS999999] Funding Source: Medline
- NCATS NIH HHS [UL1 TR001102] Funding Source: Medline
- NINDS NIH HHS [R01 NS082286] Funding Source: Medline
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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 worsening epilepsy are reported. GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.
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