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Pyridoxine-dependent epilepsy: Difference between revisions
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==Source== | ==Source== | ||
Scharer G. 2010 | Scharer G. 2010 | ||
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112356/pdf/nihms233271.pdf The genotypic and phenotypic spectrum of pyridoxine- | [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 | ||
dependent epilepsy due to mutations in ALDH7A1]J Inherit Metab dis 33(5):575 585 | |||
[[Category:epilepsy]] | [[Category:epilepsy]] | ||
Revision as of 15:05, 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.
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