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العنوان
Genetic Aspects of Epilepsy/
المؤلف
Abd Elaaty,Heba Elshaboury Abd Ellateif .
هيئة الاعداد
باحث / هبه الشابورى عبد اللطيف عبد العاطى
مشرف / كرم محمودعلى عبد العليم
مشرف / / هبة صلاح عبد الخالق العبد
تاريخ النشر
2017.
عدد الصفحات
152.p;
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2017
مكان الإجازة
جامعة عين شمس - كلية الطب - Pediatrics
الفهرس
Only 14 pages are availabe for public view

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from 154

Abstract

While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mecha- nisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.