Epilepsy and folate deficiency.
نویسندگان
چکیده
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منابع مشابه
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents presenting with megaloblastic anemia and cerebral folate deficiency causing neurologic disease with atypical childhood absence epilepsy. Genome-wide...
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In a patient with celiac disease, folate and iron deficiency, and epilepsy, CT over a 4-month period showed parietoocipital calcifications in the corticomedullary junctions. The calcification was progressive, but it and the seizures stabilized after institution of a gluten-free diet and iron and folic acid supplements.
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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...
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متن کاملLate diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings
Cerebral folate deficiency is a genetically heterogeneous condition.(1) Mutations in FOLR1 are responsible for a rare but treatable form of cerebral folate deficiency (OMIM #613068).(1) The gene codes for folate receptor alpha (FRα), a specific CNS folate transporter. Individuals with FOLR1-related folate deficiency present with ataxia, dyskinesia, spasticity, seizures, and regression in cognit...
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ورودعنوان ژورنال:
- British medical journal
دوره 4 5783 شماره
صفحات -
تاریخ انتشار 1971