نتایج جستجو برای: pyridoxine depended seizures
تعداد نتایج: 88326 فیلتر نتایج به سال:
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is ofte...
AIM To study the difference between pyridoxine (PN) and its active form, pyridoxal phosphate, (PLP) in control of idiopathic intractable epilepsy in children. METHODS Among 574 children with active epilepsy, 94 (aged 8 months to 15 years) were diagnosed with idiopathic intractable epilepsy for more than six months. All received intravenous PLP 10 mg/kg, then 10 mg/kg/day in four divided doses...
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...
A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...
Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs. Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include a...
how to cite this article: asadi-pooya aa, sharifzade m. west syndrome in south iran: electro-clinical manifestations. iran j child neurol. 2013 summer; 7(3): 40-44. objective we aimed to determine the clinical and electroencephalographic (eeg) characteristics of the patients with west syndrome (ws) in south iran. materials & methods in this retrospective study, all patients with a clinical diag...
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnos...
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