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Pyridoxine-dependent epilepsy

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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


  1. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation