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

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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.accessioned2020-03-26T18:58:38Z
dc.date.available2020-03-26T18:58:38Z
dc.date.issued2014
dc.departmentSelçuk Üniversitesien_US
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.en_US
dc.identifier.endpage660en_US
dc.identifier.issn1128-3602en_US
dc.identifier.issue5en_US
dc.identifier.pmid24668705en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage657en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/31218
dc.identifier.volume18en_US
dc.identifier.wosWOS:000341967900008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherVERDUCI PUBLISHERen_US
dc.relation.ispartofEUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCESen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectFebrile seizures (FS)en_US
dc.subjectMEFVen_US
dc.subjectPyrineen_US
dc.subjectIL-1en_US
dc.subjectM694Ven_US
dc.titleThe prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizuresen_US
dc.typeArticleen_US

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