The study of genetic polymorphism of febrile seizures

Abstract

INTRODUCTION "A seizure occurring in childhood after six months of age associated with a febrile illness not caused by an infection of the central nervous system, without previous neonatal seizures or a previous unprovoked seizure, and not meeting the criteria for other acute symptomatic seizures" is defined as a febrile seizure. The most prevalent kind of seizures in children are febrile seizures, which have a 1.6:1 male predominance. Compared to the general population who experience FSs, children with a family history of FS have a three-fold or higher risk of recurrence. Recurrent FSs are thought to be more compatible with a positive family history among first-degree relatives than with recent infections, fever, and perinatal exposure. Numerous studies have so far identified the genetic heterogeneity of familial FSs (referred to as FEB1–FEB11). Specifically, ADGRV1 (OMIM *602851), which genes for the large calcium-binding protein adhesion G protein-coupled receptor (aGPCR) V1, which is abundantly expressed in the central nervous system, was previously discovered as a hereditary cause of afebrile and febrile seizures. AIMS OF THE STUDY To study the genes associated with febrile seizures and genetic susceptibility in Vijayapura region of Karnataka, South India. OBJECTIVES OF THE STUDY To assess the role of the genes in genetic predisposition to the development of febrile convulsions. Materials and methods The study would cover all cases of fever-related seizures admitted to the Paediatrics Department at Shri B.M. Patil Medical College Hospital and Research Centre in Vijayapura that match the inclusion and exclusion criteria. A minimum of 50 instances will be examined. An incident that occurs in infancy or childhood, typically between the ages of 6 months and 6 years, and is characterised by fever but no indication of intracranial infection. The subjects enrolled in the study provided consent. Following consent, 1 ml of peripheral blood was collected in EDTA-coated vacutainers (BD367863) and stored at 4°C. PCR products were sequenced using capillary-based Big-Dye terminators. Prior to sequencing, the PCR products went through cycle sequencing and plate processing. Statistical analysis: The collected data will be loaded into a Microsoft Excel spreadsheet, and statistical analysis will be carried out using the statistical programme for the social sciences (Version 20). The results will be reported as mean ± SD, median, interquartile range, frequency, percentages and graphs. Results: We found that majority were in 1-2 years i.e50%(n-25) followed by 2-5 years 40%(n-20) and least in >12 months of age, 56%(n-28) are males and 44%(n-22) were Females . 38% (n-19) had family history of febrile Convulsion and 62%(n-31) had no family history of febrile Convulsion, 76%(n-38) had typical febrile seizures and 24%(n-12) had atypical febrile seizures. KCNQ2 gene is positive in 6.% (n-3) patients Conclusion The extensive genetic diversity within FS requires patients to undergo complete genetic testing because researchers have proven its necessity through their examination. Research indicates that genetic mutations found in KCNQ2, CPA6 and SEMA6B genes affect susceptibility to FS in patients. More extensive research involving bigger participant groups should occur to both confirm these gene association findings and explain how these mutations cause FS.