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Pyridoxine-dependent epilepsy: Difference between revisions
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A pathogenesis not jet elucidated of Piridoxyne-dependent [[epilepsy]]. | A pathogenesis not jet elucidated of Piridoxyne-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 reaction forming a complex, and the clinical responde of treatment with [[pyridoxine]] has resulted in the suggestion of central pyridoxine deficiency state. | 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. | ||
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[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 | [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 | ||
<references/> | |||
[[Category:epilepsy]] | [[Category:epilepsy]] | ||
Revision as of 15:29, 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
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