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العنوان
Prognostic values of cyp2c9 and cyp2c19 polymorphisms among Egyptian children with primary epilepsy /
المؤلف
El-Talal, Samah Naem El-Sayed Mohammed.
هيئة الاعداد
باحث / سماح نعيم السيد محمد التلال
مشرف / مصطفى محمود فهمي العيوطي
مناقش / يحيي محمد مختار وهبه
مناقش / عفاف محمد السعيد فهمي
الموضوع
Epilepsy. Cytogenetics. Pediatrics.
تاريخ النشر
2018.
عدد الصفحات
113 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2018
مكان الإجازة
جامعة المنصورة - كلية الطب - طب الأطفال
الفهرس
Only 14 pages are availabe for public view

from 142

from 142

Abstract

Epilepsy is a common neurological disorder with more than 500 associated genes. Epilepsy in childhood is treated mainly by antiepileptic drugs with a variable response that can be affected by multiple genotypes. Although many antiepileptic drugs are available, there are many major challenges in the treatment of epilepsy. Even after all possible treatment interventions, nonresponsive cases of up to one third of epilepsy patients were reported. The difference in cytochrome 450 different individuals can affect the metabolism of antiepileptic drugs, which may be related to the patient’s response to treatment or nonresponse. Search Goal:To find the potential role of cytochrome P2C9 and cytochrome P2C19 polymorphisms in influencing the response to antiepileptic drugs in children with primary epilepsy in Egypt ”delta region”. The study included the selection of a group of (100) patients with primary epilepsy from the internal department and outpatient clinics in the Department of Neurology at Mansoura University Children’s Hospital in addition to (50) apparently healthy subjects matched in age and sex as controls from April 2015 to September 2017. where they were divided into two groups: group I: ”50 responding cases and 50 unresponsive cases”. group II: ”50 normal cases ”control group” With the aim of comparing the first group with the second group and its effect on the diversity of cytochrome genotypes P2C9 and cytochrome P2C19. where the method of research as follows: All patients were subjected to A-full history of patients with a focus on age, gender, type of convulsions, frequency and duration of convulsions, treatment plan and patient compliance with antiepileptic drugs. B- Clinical examination: complete medical examination with a focus on a general examination and examination of the nervous system. These include a complete blood count, SGOT, SGPT, serum ceratinine, EEG and CT scan of the brain and Genotyping for frequencies of cytochrome P2C19*2 (681G>A), cytochrome P2C19*3 (636G>A ), cytochrome P2C9*2 (430 C>T ) and cytochrome P2C9*3 (1075 A>C ) using PCR techniques. The results of the study confirm that:•There was significant difference between patients and controls regarding cytochrome P2C9 and cytochrome P2C19 variants. In our study, the binary logistic univariate and multivariate regression analysis showed that, only age of onset (younger age), frequency of seizures (high seizure frequency), the homozygote genotype of CYP2C9*2 (TT) were the significant predictors of refractory epilepsy.