Febrile Seizure Clinical Trial
Official title:
Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study
Febrile seizures(FS) are the most common neurological disorder in chilhood and are a great
stress for parents due to their dramatic clinical appearance.
Using HRC-test(test for determination of homozygously recessive characteristics in humans) we
analyzed presence, distribution, and individual combination of 20 selected genetically
controlled morpho-physiological traits among FS patients and control to determine a possible
deviation in the homozygosity level and genetic loads in the group of affected children and
whether there is a predisposition to the occurrence of FS.
Febrile seizures(FS) are one of the most common neurological disorders in children and
infants. It is estimated that 2-5% of children younger than 5 years of age experience at
least one epileptic seizure during the period of febrile seizure.
FS, as defined by the American Academy of Pediatrics (AAP), are " seizure occurring in
febrile children between the ages of 6 and 60 months who do not have an intracranial
infection, metabolic disturbance, or history of afebrile seizures ".
The diagnosis of FS is based on physical examination and anamnesis taken from the gardian,
aiming primarily to detect the real cause that led to a FS.
The etiology of FS is complex and it is still the subject of numerous studies and research
done in the field. However, there is strong evidence showing that heterogeneous genetic
predisposition interacting with various risk factors can lead to a FS.
There are several risk factors mentioned in literature which can cause the first FS. One of
the most important is positive family history of FS (especially among the closest relatives)
. Other possible factors include: high body temperature (the higher level of body temperature
increases the risk of a seizure occurrence), preexisting neurodevelopment delay , neonatal
care longer that 28 days.
The development of epilepsy after FS moves around 3%, after simple febrile seizure (SFS) the
risk is around 2% whereas after complex febrile seizure (CFS) it is about 2 to 3%. Around 13%
of epilepsy patients have experienced FS once. Prolonged FS can lead to mesial temporal
sclerosis and to temporal lobe epilepsy, but the level of risk is still uncertain.
The research shows that abnormal neurological development before the FS, the occurrences of a
febrile seizures among relatives, as well as the CFS, represent risk factors for emergence of
epilepsy after the FS.
Since FS are genetically controlled, it is presumed that increased homozygosity and decreased
variability in patients can be in correlation with the expression of FS.
The determination of the presence of homozygous-recessive characteristics (HRC) in
individuals with FS provides an insight whether the prevalence of homozygous or heterozygous
loci on different chromosomes exists. The number of homozygous recessive traits represent one
type of indicator of the homologous chromosomal homozygosity, which can vary significantly
both at the individual, as well as at the group level.
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