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Pyridoxine-dependent epilepsy

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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.

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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