The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures

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dc.authoridKOCAK, NADIR/0000-0002-1104-1292
dc.contributor.authorOzen, F.
dc.contributor.authorKocak, N.
dc.contributor.authorKelekci, S.
dc.contributor.authorYildirim, I. H.
dc.contributor.authorHacimuto, G.
dc.contributor.authorOzdemir, O.
dc.date.accessioned2025-01-27T20:44:12Z
dc.date.available2025-01-27T20:44:12Z
dc.date.issued2014
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBACKGROUND: 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-1 beta are related to with febrile convulsions (FCs). Interleukin 1 beta (IL-1 beta) 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 Pyro-Mark Q24. PCR was performed using the Pyro-Mark 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.
dc.identifier.endpage660
dc.identifier.issn1128-3602
dc.identifier.issue5
dc.identifier.pmid24668705
dc.identifier.startpage657
dc.identifier.urihttps://hdl.handle.net/20.500.12428/24508
dc.identifier.volume18
dc.identifier.wosWOS:000341967900008
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherVerduci Publisher
dc.relation.ispartofEuropean Review For Medical and Pharmacological Sciences
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectFebrile seizures (FS)
dc.subjectMEFV
dc.subjectPyrine
dc.subjectIL-1
dc.subjectM694V
dc.titleThe prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures
dc.typeArticle

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