View source for Pyridoxine-dependent epilepsy

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 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==
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

[[Category:epilepsy]]