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Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: Identification of a putative locus on chromosome 9q32-33

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dc.contributor.authorGÜNEY, AHMET İLTER
dc.contributor.authorsBaykan, B; Madia, F; Bebek, N; Gianotti, S; Guney, AI; Cine, N; Bianchi, A; Gokyigit, A; Zara, F
dc.date.accessioned2022-03-14T09:25:22Z
dc.date.available2022-03-14T09:25:22Z
dc.date.issued2004-05
dc.description.abstractPurpose: The study describes the clinical features of an inbred family from Turkey with three members affected by seizures and tests possible autosomal recessive (AR) inheritance by means of linkage analysis. Methods: Personal and family history was obtained from each subject, and general physical, neurologic, and EEG examinations were performed. A set of 382 fluorescence-labeled markers was used for the initial genome-wide search. A further set of 83 markers was used to map the locus precisely and to exclude the remaining genome. Results: Twelve individuals from three generations were examined. Two subjects were affected by idiopathic epilepsy, whereas, their brother experienced a single unprovoked generalized seizure. Two siblings affected by idiopathic epilepsy and their unaffected sister showed a photoparoxysmal response to photic stimulation. Nine family members reported migraine. The genome-wide search led to the identification of a unique homozygous, 15.1-cM region shared by subjects with seizures on chromosome 9q32-33 and providing a lod score of 2.9. This locus, however, was not associated with migraine in this pedigree. Conclusions: The study suggests that idiopathic epileptic traits with AR inheritance might be underestimated in the general population and that inbred pedigrees may represent powerful tools for the identification of AR genes.
dc.identifier.doi10.1111/j.0013-9580.2004.30903.x
dc.identifier.eissn1528-1167
dc.identifier.issn0013-9580
dc.identifier.pubmed15101829
dc.identifier.urihttps://hdl.handle.net/11424/243102
dc.identifier.wosWOS:000221213500009
dc.language.isoeng
dc.publisherWILEY
dc.relation.ispartofEPILEPSIA
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectidiopathic
dc.subjectepilepsy
dc.subjectautosomal recessive inheritance
dc.subjectinbred families
dc.subjectFEBRILE SEIZURES PLUS
dc.subjectMYOCLONIC EPILEPSY
dc.subjectROLANDIC EPILEPSY
dc.subjectGENERALIZED EPILEPSY
dc.subjectSODIUM-CHANNEL
dc.subjectGENE
dc.subjectMIGRAINE
dc.subjectMUTATIONS
dc.subjectCHILDHOOD
dc.subjectDISORDER
dc.titleAutosomal recessive idiopathic epilepsy in an inbred family from Turkey: Identification of a putative locus on chromosome 9q32-33
dc.typearticle
dspace.entity.typePublication
local.avesis.idee6ab1b6-2941-46f2-88f3-78229a855b0b
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.journal.numberofpages9
oaire.citation.endPage487
oaire.citation.issue5
oaire.citation.startPage479
oaire.citation.titleEPILEPSIA
oaire.citation.volume45
relation.isAuthorOfPublicationd474fc8a-ae88-487e-b63b-7f506191fb94
relation.isAuthorOfPublication.latestForDiscoveryd474fc8a-ae88-487e-b63b-7f506191fb94

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