View source for Pyridoxine-dependent epilepsy

A pathogenesis not jet elucidated of Pyridoxine-dependent [[epilepsy]].
<ref>[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789384/ Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation]</ref>
The interaction of piperedeine-6-carboxylate with pyridoxal-phosphate through [[Knoevenagel condensation|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]

===Metabolic 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]

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==
Scharer G. 2010
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112356/pdf/nihms233271.pdf The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1] J Inherit Metab dis 33(5):575 585


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[[Category:epilepsy]]