Wikisage, the free encyclopedia of the second generation, is digital heritage
Pyridoxine-dependent epilepsy: Difference between revisions
m (Penarc moved page Piridoxyne-dependent epilepsy to Pyridoxine-dependent epilepsy: grammar) |
mNo edit summary |
||
| Line 1: | Line 1: | ||
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> | <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 condensation|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. | ||
Revision as of 19:17, 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
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