نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
BACKGROUND Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. METHODS This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol ...
Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenting with seizures at a later age, and with folate deficiency due to different mechanisms with vari...
Autism spectrum disorder (ASD) affects a significant number of individuals in the United States, with the prevalence continuing to grow. A significant proportion of individuals with ASD have comorbid medical conditions such as epilepsy. In fact, treatment-resistant epilepsy appears to have a higher prevalence in children with ASD than in children without ASD, suggesting that current antiepilept...
Intact pyridoxine glucoside showed about 20% of microbiological activity of equivalent mole of pyridoxine for Saccharomyces carlsbergensis 4228 ATCC 9080. The activity was gradually increased accompanied with the prolonged incubation. It seems that pyridoxine glucoside is hydrolyzed to pyridoxine and glucose by a-glucosidase of Saccharomyces carlsbergensis 4228 ATCC 9080 and can be bioassayed a...
The association of dietary pyridoxine deficiency and convulsions was first noted in animal experiments by Chick, El Sadr and Worden (1940). An analogous situation in humans was recognized when Snyderman, Carretero and Holt (1950) described the onset of seizures in a mentally retarded child whose diet lacked this vitamin. Shortly afterwards, an outbreak of convulsions in young infants in the Uni...
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