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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Cormier-Daire, Valérie, Dagoneau, Nathalie, Nabbout, Rima, Burglen, Lydie, Penet, Clotilde, Soufflet, Christine, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2000
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287902/
https://ncbi.nlm.nih.gov/pubmed/10978228
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