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临床试验/NCT04287881
NCT04287881已完成不适用

Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults

Istanbul Medeniyet University4 个研究点 分布在 1 个国家目标入组 32 人开始时间: 2019年10月31日最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
发起方
入组人数
32
试验地点
4
主要终点
Methylenetetrahydrofolate reductase (MTHFR) deficiency

研究概览

简要总结

Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. MTHFR deficiency is an autosomal recessive disorder that results in hyperhomocysteinemia and causes a predisposition to venous and arterial thrombosis. The incidence of the polymorphism is around 40% in some countries. The aim of the retrospective study is to investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures.

详细描述

Epileptic seizures that begin in adulthood seriously affect patients, their relatives and the society in which they live financially and psychologically. The etiology of epileptic seizures starting at adult age includes head trauma, central nervous system infections, intracranial lesions, cerebrovascular events, metabolic diseases and drugs. While the causes of childhood epileptic seizures are generally considered idiopathic, adult-onset epileptic seizures are almost always due to a pathological process. Epileptic seizures in adults may be a symptom of ischemic stroke. MTHFR deficiency is associated with raised homocysteine concentration in the body and increased risk of stroke (1). Studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke (2).

MTHFR is the key enzyme in remethylation of homocysteine to methionine. MTHFR deficiency is an autosomal-recessive disease characterized by high homocysteine and low or normal methionine. MTHFR deficiency can cause vascular thrombosis in adults at early age; increased osteoporosis in elderly people; deep vein thrombosis, abortus during pregnancy; and infertility in adult males. In children, it is associated with intrauterine growth retardation, congenital heart diseases, neural tube defects, chromosome anomalies and hematologic tumors. In any age group, it might cause convulsions, increased thrombosis risk with some anticonvulsants and with the use of nitrogen protoxide in surgeries, and neuromotor retardation (3).

The aim of this retrospective study is to investigate the incidence of MTHFR deficiency in patients presenting with adult-onset epileptic seizures and diagnosed as ischemic cerebrovascular disease as a result of diagnostic tests.

研究设计

研究类型
Interventional
分配方式
Na
干预模型
Single Group
主要目的
Screening
盲法
None

入排标准

性别
All
接受健康志愿者

入选标准

  • The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.

排除标准

  • Pediatric patients with epileptic seizures

结局指标

主要结局

Methylenetetrahydrofolate reductase (MTHFR) deficiency

时间窗: Up to 6 weeks

The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke

次要结局

未报告次要终点

研究者

发起方
Istanbul Medeniyet University
申办方类型
Other
责任方
Principal Investigator
主要研究者

Zeynep Nur Orhon

Principal Investigator

Istanbul Medeniyet University

研究点 (4)

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