نتایج جستجو برای: pyridoxine depended seizures
تعداد نتایج: 88326 فیلتر نتایج به سال:
An 18-year-old man was treated from birth with chronic high dose pyridoxine (vitamin B6) up to 2000 mg per day for pyridoxine-dependent seizures. Within two years of onset of treatment, he developed a sensory neuropathy which did not progress over the following 16 years. Electrophysiological studies were consistent with a pure sensory neuronopathy expressed as centripetal degeneration of proces...
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it ha...
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therap...
Toxin-related seizures result from an imbalance in the brain's equilibrium of excitation-inhibition. Fortunately, most toxin-related seizures respond to standard therapy using benzodiazepines. However, a few alterations in the standard approach are recommended to ensure optimal care and expedient termination of seizure activity. If 2 doses of a benzodiazepine do not terminate the seizure activi...
Although seizures are rarely encountered in Wilson's disease (WD), seizures related to hypocupremia have not been reported before. We report a patient presenting with partial status epilepticus who was on strict low-copper diet and chelating therapy for WD. Despite other rare causes of seizures in WD including penicillamine-induced pyridoxine deficiency, cerebral copper deposition and metabolic...
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances. Although epilepsy in IEM can be classified in various ways according to pathogenesis, age of onset, or electroclinical presentation, the...
pyridoxine-deficiency convulsions in humans was by Synderman i in 1950. He showed that apathy, failure to gain weight, anemia, and convulsions occurred on a pyridoxine-deficient diet and that admin¬ istration of pyridoxine corrected the condition. The 1951 edition of New and Nonofficial Reme¬ dies mentioned for the first time that infant convulsions might be caused by pyridoxine deficiency.5 Fi...
OBJECTIVE Pyridoxine-dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. MATERIALS AND METHODS EEG tracings from four patients fulfilling the clinical criteria for PDE were reviewed. Relative to the time of treatment with pyridoxine, EEG recordings were available b...
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