نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
pyridoxine dependent seizure have been recornized as a rare and important cause of intractable seizure in neonates and infants.prompt diagnosis and treatment can stop and prevent these seizure and consequential developmental disabilities.furthermore it can eliminate the unnecessary administration of anticonvulsant medications and thier side effects.the paitient was 7 months old infant who was r...
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of th...
PURPOSE OF REVIEW The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment. RECENT FINDINGS In addition to those included in the classification of the International League Against Epilepsy, new epilepsy syndromes comprise febrile seizures plus, benign fami...
Aldehyde dehydrogenase 7A1 (ALDH7A1) is involved in lysine catabolism, catalyzing the oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Certain mutations in the ALDH7A1 gene, which are presumed to reduce catalytic activity, cause an autosomal recessive seizure disorder known as pyridoxine-dependent epilepsy (PDE). Although the genetic association between ALDH7A1 and PDE is well establ...
Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism. A significant neurologic complication of pyridoxine therapy is peripheral neuropathy thought to be a result of long-term and high dose usage. Although pyridoxine-induced neuropathy is transient and can remit after its withdrawal, the pr...
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