نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
BACKGROUND Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that adjunct treatment with a lysine-restricted diet is safe, results in partial normalization of lysine intermediates in body fluids, and may have b...
The kidneys play an important role in regulating vitamin B(6) body homeostasis, but limited information exists regarding the mechanism of pyridoxine uptake by renal epithelial cells, and no study exists on its regulation. To address these issues, we used the renal opossum-derived tubular epithelial (opossum kidney; OK) cells and found pyridoxine uptake to 1) be temperature and energy dependent,...
We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosph...
By ALFRED GELLHORN, M.D., AND LOGAN 0. JONES, M.D. E VIDENCE from animal experimentation indicates that pyridoxine, a cornponent of the vitamin B complex, is an essential factor for the maintenance and function of hematopoietic tissue. Severe anemia has been induced in dogs’ and swine2 on a pyridoxine deficient diet and the integrity of lymphoid tissue in rats has also been demonstrated to be d...
IINUMA, K., NARISAWA, K., YAMAUCHI, N., YOSHIDA, T. and MIZUNO, T. Pyridoxine Dependent Convulsion: Effect of Pyridoxine Therapy on Electro encephalograms. Tohoku J. exp. Med., 1971, 105 (1), 19-26 In a 7-month old boy with vitamin B6 dependent convulsion it was found that distribution of energy % of the EEG basic waves as well as an auto-correlogram of EEG remained abnormal 24 hours after an i...
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene encoding α-aminoadipic semialdehyde dehydrogenase. The classic clinical presentation is neonatal seizures responsive only to pyridoxine therapy. White matter abnormalities, corpus callosum agenesis or hypoplasia, megacisterna magna, cortical dysplasia, neuronal heterotopias, intracerebral hemorrhage, and hydrocephalu...
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