The GABA(A) receptor gamma y2 subunit (R43Q) mutation in febrile seizures

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dc.authorid0000-0002-8968-4079
dc.contributor.authorHancili, Suna
dc.contributor.authorÖnal, Zehra Esra
dc.contributor.authorAta, Pınar
dc.contributor.authorYüksel Karatoprak, Elif
dc.contributor.authorGürbüz, Tamay
dc.contributor.authorBostancı, Muharrem
dc.contributor.authorPaçal, Yakup
dc.contributor.authorNuhoğlu, Çağatay
dc.contributor.authorCeran, Ömer
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T20:02:28Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T20:02:28Z
dc.date.issued2014
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.descriptionWOS: 000333866200016
dc.descriptionPubMed ID: 24630281
dc.description.abstractBACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the gamma 2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS: We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the gamma 2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS: We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor gamma 2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS: Heterozygous gamma-aminobutyric acid A receptor gamma 2 subunit (R43Q) mutation may have an effect in the development of febrile seizures.
dc.identifier.citationHancili, S., Önal, Z. E., Ata, P., Yüksel Karatoprak, E., Gürbüz, T., Bostancı, M. ... Ceran, Ö. (2014). The GABA(A) receptor gamma y2 subunit (R43Q) mutation in febrile seizures. Pediatric Neurology, 50(4), 353-356. https://dx.doi.org/10.1016/j.pediatrneurol.2014.01.002
dc.identifier.doi10.1016/j.pediatrneurol.2014.01.002
dc.identifier.endpage356
dc.identifier.issn0887-8994
dc.identifier.issn1873-5150
dc.identifier.issue4
dc.identifier.scopusqualityQ2
dc.identifier.startpage353
dc.identifier.urihttps://dx.doi.org/10.1016/j.pediatrneurol.2014.01.002
dc.identifier.urihttps://hdl.handle.net/20.500.12511/3653
dc.identifier.volume50
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofPediatric Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectGABA(A) Receptor
dc.subjectFebrile Seizure
dc.subjectGamma 2 Subunit
dc.subjectR43Q Mutation
dc.titleThe GABA(A) receptor gamma y2 subunit (R43Q) mutation in febrile seizures
dc.typeArticle

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