Relationship Between Polymorphisms of TRPV1 and KCC2 Gene in Children With Febrile Seizures
Condition: Febrile Seizure
MeSH terms: Seizures; Seizures, Febrile; Hyperthermia; Fever
Study type: Observational [Patient Registry]

Summary: 
      Febrile seizures (FS) are the most common neurological disorder in chilhood. The etiology of
      FN is still the subject of numerous studies and it is known that it can depend on genetic
      predisposition.
    

Detailed description: 
      Febrile seizures (FS) are the most common neurological disorder in chilhood. It is precisely
      because of the high incidence of the disease, the age that includes the tendency of
      repetition, represent a particular challenge in pediatric practice.

      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 ".

      Simple febrile seizure is defined as a short (<15 min) generalized seizure, not repeat within
      24 h, that occurs during a febrile illness not resulting from an acute disease of the nervous
      system in a child aged between 6 months and 5 years, with no neurologic deficits and no
      previous afebrile seizures. Complex febrile seizures are a focal, or generalized and
      prolonged seizure, of a duration of greater than 15 min, recurring more than once in 24 h,
      and/or associated with postictal neurologic abnormalities, more frequently a postictal palsy
      (Todd's palsy), or with previous neurologic deficits.

      The etiology of FN is still the subject of numerous studies and it is known that it can
      depend on genetic predisposition.

      Animal studies have shown that mice without the KCC2 gene have frequent generalized seizures,
      while those with heterozygous deletion of the KCC2 gene have a reduced threshold for seizure
      onset. In the human population, mutations of this gene have been reported in children with FN
      as well as in children with epilepsy. There is no examined an association between
      polymorphism rs2297201 KCC2 gene and FS.

      Studies have shown an association between TRPV1 genes and the appearance of FS in
      experimental models, however, similar studies in the human population have not been done so
      far. Studies Moria et al. 2012 showed that polymorphism rs222797 TRPV1 gene involve the
      regulation of human cortical excitability, glutamate transmission and increased neuronal
      excitability. The C allele this polymorphism is associated with a greater maximal response to
      the caspaicin and anadamine agonists. All of this indicate that changes TRPV1 gene that lead
      to increased channel function may suggest a predisposition for FS.

      Since FS are genetically controlled, we want to determine the association of TRPV1 and KCC2
      gene polymorphisms with the occurrence of FN.
    

Intervention name(s): Isolated DNA, Real Time PCR
Intervention type(s): Genetic
Intervention description(s): We are isolated DNA from the blood sample. To determine the genotypes of the analyzed polymorphisms use real-time PCR using TaqMan essays.
When analyzing the KCC2 polymorphisms, the VIC dye gene corresponded to the C allele, and the FAM dye corresponded to the T allele, while at the TRPV1 gene polymorphism, the VIC dye corresponded to the C allele and the FAM dye to the G allele.
Observational model: Case-Control
Time perspective: Cross-Sectional
Sampling method: Probability Sample
Study population: 
        The Febrile Seizure affected children as well as the individuals from the control group
        were members of the same population (Serbian).
      
Biospecimen description: 
      -  C_16186074_10 for rs2297201 polymorphisms KCC2 gene

        -  C_1093688_20 za rs222747 polymorphisms TRPV1 gene (Thermo Fisher Scientific, Walthman,
           MA, SAD)
    
Keywords: gene polymorphisms; febrile seizure; KCC2 gene; TRPV1 gene