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العنوان
Genetic evaluation of children with febrile /
المؤلف
Abd Elhameed, Dalia Saber Saad.
هيئة الاعداد
باحث / داليا صابر سعد عبد الحميد
مشرف / سامح عبدالله عبد النبي
مشرف / نجلاء فتحي برسيم
مشرف / عصام شوقي خطاب
الموضوع
Pediatric. Fever in Children. Fever- Therapy.
تاريخ النشر
2020.
عدد الصفحات
100 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
الناشر
تاريخ الإجازة
28/11/2020
مكان الإجازة
جامعة المنوفية - كلية الطب - طب الأطفال
الفهرس
Only 14 pages are availabe for public view

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Abstract

Febrile seizure is considered the most common convulsive event of childhood,
occurring in 2% to 5% in infants and children. The American Academy of Pediatrics
(AAP) defines febrile seizures as seizures accompanied by fever (>38° by any
method) that occur in neurologically healthy infants and children (6 through 60
months of age) who do not have intra-cranial infection, metabolic disturbance, or a
history of afebrile seizures.
They are sub-classified into two categories: simple and complex. Simple febrile
seizure is generalized, lasting less than 15 minutes and occurs, whereas complex
febrile seizures are seizures that have one or more of the following features:
prolonged duration of more than 15 min, occur more than once in a 24-hour period or
focal seizures
Febrile seizure is the most common convulsive event during childhood, but it is
generally considered benign.
FS refer to the convulsions that occur in children between the ages of 6 months
and five years , with body temperature of 38°C or higher not resulting from central
nervous system (CNS) infection or any metabolic imbalance without any prior
afebrile seizures. In the United States and Western Europe, they occur 2-4% of all
children.
FS have been studied extensively over the past two decades, and with the
available literature, practitioners can easily assess the risks associated with such
presentations. Independent risk factors for febrile convulsions were height of
temperature, history of febrile convulsions in a first degree of relatives, the number of
fever episodes per year. Genetic factors contribute significantly, as the relatives of
these patients are at increased risk compared to the general population.
Most studies have supported a multifactorial model with an estimated
heritability of 75%. Risk factors associated with a complex first febrile convulsion
were age of 15 months or less, birthweight of 2kg or less, and initial temperature 38°C
or less.
In the last decade, various coding and noncoding sequence variations of
voltage-gated sodium channels SCN1A, SCN2A, SCN8A and SCN9A have been
identified in patients with seizures, ataxia, and sensitivity to pain. Apart from their
role in nerve conduction and the process of epileptogenesis, these voltage-gated
sodium channels are also recognized as the major targets with respect to AED
efficacy .
We aimed for Genetic study of infant and children with febrile seizures to study
the association between SCN2A gene and genetic epilepsy febrile seizures pulse for
help of children and their families
The present study was carried out on 100 epileptic infants and children attended
to our pediatric department at Menoufia University Hospitals (group Ι). The patients
were sub-classified into two groups, according to response to treatment; group Ι a
(drug responder) and (group Ι b) drug resistant.
Apparently, healthy 100 children matched with the epileptic patients in the same age and sex from our pediatric general clinic at Menoufia University Hospital as a control group (group ΙΙ).