نتایج جستجو برای: pyridoxine dependent epilepsy
تعداد نتایج: 745226 فیلتر نتایج به سال:
intractable epilepsy is a common clinical problem in pediatrics and approximately 13% of children with epilepsy experience intractable seizures. to determine the efficacy of pyridoxine in treating seizures, 30 infants and children with recurrent seizures were enrolled in the present study. all of them were treated with high-dose oral pyridoxine (40 mg/kg/day), as an adjunct to antiepileptic dru...
Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were charact...
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Sylvia Stockler ⁎, Barbara Plecko , Sidney M. Gospe Jr. , Marion Coulter-Mackie , Mary Connolly , Clara van Karnebeek , Saadet Mercimek-Mahmutoglu , Hans Hartmann , Gunter Scharer , Eduard Struijs , Ingrid Tein , Cornelis Jakobs , Peter Clayto...
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...
Mutations in ion channel genes can cause a diverse group of phenotypes and play important roles in the filed of monogenic neurological diseases [1]. With the application of Next-generation sequencing, more and more genetic and clinical heterogeneity in monogenic neurological diseases was reported, which improved our understanding of the pathophysiologic mechanisms in different monogenic neurolo...
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