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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 https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy] | [https://www.ncbi.nlm.nih.gov/pubmed/20301659 https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy] | ||
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] | |||
==Source== | ==Source== | ||
Scharer G. 2010 | Scharer G. 2010 | ||
Revision as of 15:20, 5 August 2017
A pathogenesis not jet elucidated of Piridoxyne-dependent epilepsy.
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. https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy
Sharma S and AN Prazad 2017
inborn errors of metabolism and epilepsy:Current understanding, diagnosis, and treatment appraches
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