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Pyridoxine-dependent epilepsy: Difference between revisions
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Gospe SM Jr. | Gospe SM Jr. | ||
[https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy] | [https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy] | ||
Pirzadeh Z, Ghofrani M, Mollamohammadi M. 2017 | |||
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493827/pdf/ijcn-11-031.pdf Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy] Iran J Child Neurol. 11(2):31-36. | |||
===Metabolic epilepsy=== | ===Metabolic epilepsy=== | ||
Sharma S and AN Prazad 2017 | Sharma S and AN Prazad 2017 | ||
[https://www.ncbi.nlm.nih.gov/pubmed/28671587 inborn errors of metabolism and epilepsy:Current understanding, diagnosis, and treatment appraches] | [https://www.ncbi.nlm.nih.gov/pubmed/28671587 inborn errors of metabolism and epilepsy:Current understanding, diagnosis, and treatment appraches] | ||
Revision as of 19:21, 7 August 2017
A pathogenesis not jet elucidated of Pyridoxine-dependent epilepsy. [1] The interaction of piperedeine-6-carboxylate with pyridoxal-phosphate through Knoevenagel reaction forming a complex, and the clinical responde of treatment with pyridoxine has resulted in the suggestion of central pyridoxine deficiency state.
Links
Gospe SM Jr. Pyridoxine-dependent epilepsy
Pirzadeh Z, Ghofrani M, Mollamohammadi M. 2017 Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy Iran J Child Neurol. 11(2):31-36.
Metabolic epilepsy
Sharma S and AN Prazad 2017 inborn errors of metabolism and epilepsy:Current understanding, diagnosis, and treatment appraches
Darin et al.2016 Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
Source
Scharer G. 2010 The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 J Inherit Metab dis 33(5):575 585