Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Current perspectives on pyridoxine-dependent seizures;Gospe;J Pediatr,1998
2. Late-onset pyridoxine-dependent seizures;Chou;Acta Paediatr Taiwanica,1995
3. Glutamic acid decarboxylase (GAD) in mammalian tissue outside the central nervous system, and its possible relevance to hereditary vitamin B6 dependency with seizures;Scriver;Ann NY Acad Sci,1969
4. Reduced GABA synthesis in pyridoxine-dependent seizures;Gospe;Lancet,1994
5. Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy;Kure;J Hum Genet,1998
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