1. Neonatal epileptic encephalopathy.
- Author
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Clayton, P T, Surtees, R A H, DeVile, C, Hyland, K, and Heales, S J R
- Subjects
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NEONATAL diseases , *EPILEPSY , *BRAIN diseases , *HEPATIC encephalopathy , *SEIZURES (Medicine) , *DECARBOXYLASES , *BIOCHEMISTRY , *VITAMIN B6 - Abstract
Presents the case of an infant who developed neonatal epileptic encephalopathy (NEE), which often presents within hour of birth with intractable seizures. Study by Bräutigam et al hich reported twins with fatal NEE and biochemistry suggestive of reduced activity of aromatic L-aminoacid decarboxylase (AADC); Case report of NEE from Taiwan which demonstrates that NEE with biochemical findings mimicking AADC deficiency is the same disorder as the syndrome of pyridoxine-resistant pyridoxal-P-sensitive seizures; Response of NEE to pyridoxal-P.
- Published
- 2003
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