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Pyridoxine-dependent epilepsy: Difference between revisions
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A pathogenesis not jet elucidated of | 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 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 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== | ==Links== | ||
Gospe SM Jr. | Gospe SM Jr. | ||
[ | [https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy] | ||
Renata Oliveira et al.2013 | |||
[http://www.jle.com/download/epd-298905-pyridoxine_dependent_epilepsy_due_to_antiquitin_deficiency_achieving_a_favourable_outcome--WYi@D38AAQEAAD-BUNEAAAAI-a.pdf Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome] | |||
Pirzadeh Z, Ghofrani M, Mollamohammadi M. 2017 | |||
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493827/pdf/ijcn-11-031.pdf Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy] Iran J Child Neurol. 11(2):31-36. | |||
===Metabolic epilepsy=== | |||
Sharma S and AN Prazad 2017 | 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] | [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== | ==Source== | ||
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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]] | ||
Latest revision as of 19:25, 7 August 2017
A pathogenesis not jet elucidated of Pyridoxine-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
Renata Oliveira et al.2013 Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome
Pirzadeh Z, Ghofrani M, Mollamohammadi M. 2017 Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy Iran J Child Neurol. 11(2):31-36.
Metabolic epilepsy
Sharma S and AN Prazad 2017 inborn errors of metabolism and epilepsy:Current understanding, diagnosis, and treatment appraches
Darin et al.2016 Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
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