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GÜNEY, AHMET İLTER

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GÜNEY

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AHMET İLTER

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2002 - 20042
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End date: 2009 × Subject: SODIUM-CHANNEL ×

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    PublicationOpen Access
    Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: Identification of a putative locus on chromosome 9q32-33
    (WILEY, 2004-05) GÜNEY, AHMET İLTER; Baykan, B; Madia, F; Bebek, N; Gianotti, S; Guney, AI; Cine, N; Bianchi, A; Gokyigit, A; Zara, F
    Purpose: 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.
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    PublicationOpen Access
    Lack of SCN1A mutations in familial febrile seizures
    (BLACKWELL PUBLISHING INC, 2002-05-24) GÜNEY, AHMET İLTER; Malacarne, M; Madia, F; Gennaro, E; Vacca, D; Guney, I; Buono, S; Dalla Bernardina, B; Gaggero, R; Gobbi, G; Lispi, ML; Malamaci, D; Melideo, G; Roccella, M; Sferro, C; Tiberti, A; Vanadia, F; Vigevano, F; Viri, F; Vitali, MR; Bricarelli, FD; Bianchi, A; Zara, F
    Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS(+)) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. Conclusions: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.