BACKGROUND: Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1β are related to with febrile convulsions (FCs). Interleukin 1β (IL-1β) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. AIM: The determine the association between mutations of MEFV gene product pyrine and febrile seizures. PATIENTS AND METHODS: The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with PyroMark Q24. PCR was performed using the PyroMark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. RESULTS: M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation.Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). CONCLUSIONS: MEFV gene mutations, especially M694V mutation, are positively associated with FSs.
BACKGROUND:Febrile seizures (FS) represent the most common form of childhood seizures that occurs in 2-5 % of the children younger than 6 years. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for susceptibility of FC with different reported mutation. FEB1, FEB2, FEB4, SCNA1, SCNA2, GABRG2 and IL-1β are related to with febrile convulsions (FCs). Interleukin 1β (IL-1β) is a cytokine that contributes to febrile inflammatory responses. There are conflicting results on increasing this cytokine in serum during FC. AIM: The determine the association between mutations of MEFV gene product pyrine and febrile seizures. PATIENTS AND METHODS: The study was carried out on 104 children that were diagnosed as FS and 96 healthy children. MEFV gene mutations were detected and analyzed with PyroMark Q24. PCR was performed using the PyroMark PCR Kit and pyrosequencing reaction was conducted on instrument instructions. RESULTS:M694V is the most common mutation in our patient group and we found a significant association between MEFV gene mutations and FSs. Of 104 patients, 68 were heterozygotes for any mutation and 10 patients were compound. 17.7% of control group were heterozygotes for any studied mutation.Statistical analyses showed that there was strongly significant statistical difference between results obtained from FS and control group (X = 46.20, p < 0.0001). CONCLUSIONS:MEFV gene mutations, especially M694V mutation, are positively associated with FSs.
Authors: Margarita A Sazonova; Anastasia I Ryzhkova; Vasily V Sinyov; Elena V Galitsyna; Alexandra A Melnichenko; Natalya A Demakova; Igor A Sobenin; Tatiana P Shkurat; Alexander N Orekhov Journal: Dis Markers Date: 2018-02-18 Impact factor: 3.434