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The GABA(A) Receptor gamma 2 Subunit (R43Q) Mutation in Febrile Seizures

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dc.contributor.authorATA, PINAR
dc.contributor.authorsHancili, Suna; Onal, Zehra Esra; Ata, Pinar; Karatoprak, Elif Yuksel; Gurbuz, Tamay; Bostanci, Muharrem; Pacal, Yakup; Nuhoglu, Cagatay; Ceran, Omer
dc.date.accessioned2022-03-13T12:46:44Z
dc.date.available2022-03-13T12:46:44Z
dc.date.issued2014
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.doi10.1016/j.pediatrneurol.2014.01.002
dc.identifier.eissn1873-5150
dc.identifier.issn0887-8994
dc.identifier.pubmed24630281
dc.identifier.urihttps://hdl.handle.net/11424/237969
dc.identifier.wosWOS:000333866200016
dc.language.isoeng
dc.publisherELSEVIER SCIENCE INC
dc.relation.ispartofPEDIATRIC NEUROLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectGABA(A) receptor
dc.subjectfebrile seizure
dc.subjectgamma 2 subunit
dc.subjectR43Q mutation
dc.subjectCHILDHOOD ABSENCE EPILEPSY
dc.subjectGAMMA-2-SUBUNIT
dc.subjectTRAFFICKING
dc.subjectFEVER
dc.titleThe GABA(A) Receptor gamma 2 Subunit (R43Q) Mutation in Febrile Seizures
dc.typearticle
dspace.entity.typePublication
local.avesis.id1e257c06-dbc5-4091-be58-407a8b697903
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages4
oaire.citation.endPage356
oaire.citation.issue4
oaire.citation.startPage353
oaire.citation.titlePEDIATRIC NEUROLOGY
oaire.citation.volume50
relation.isAuthorOfPublication4ef620f9-0462-4687-84fa-c983fb788878
relation.isAuthorOfPublication.latestForDiscovery4ef620f9-0462-4687-84fa-c983fb788878

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