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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 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 https://www.ncbi.nlm.nih.gov/pubmed/20301659 Pyridoxine-dependent epilepsy]
[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==
Line 15: Line 25:
[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