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Pyridoxine-dependent epilepsy: Difference between revisions
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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] | ||
Darin et al.2016 | |||
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142116/ Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy] | |||
==Source== | ==Source== | ||
Revision as of 15:42, 5 August 2017
A pathogenesis not jet elucidated of Piridoxyne-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
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