NCT04368936

Relationship Between Polymorphisms of TRPV1 and KCC2 Gene in Children With Febrile Seizures

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 121 (actual)
• Sponsor: Institut za Rehabilitaciju Sokobanjska Beograd · Academic / Other
• Sex: All
• Age: 1 Year – 14 Years
• Healthy volunteers: Accepted

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.

Conditions

• Febrile Seizure

Interventions

Type	Name	Description
GENETIC	Isolated DNA, Real Time PCR	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.

Timeline

• Start date: 2015-03-31
• Primary completion: 2019-05-15
• Completion: 2021-08-01
• First posted: 2020-04-30
• Last updated: 2021-10-19