A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the binding of pyridoxal 5-phosphate to glutamic acid...

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Main Authors: Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier
格式: Artigo
語言:Inglês
出版: The American Society of Human Genetics 2000
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287902/
https://ncbi.nlm.nih.gov/pubmed/10978228
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