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dc.contributor.authorSelcuk, Nilgun
dc.contributor.authorTOLUN, ASLIHAN
dc.contributor.authorDuru, Nadire
dc.contributor.authorUĞUR İŞERİ, Sibel Aylin
dc.date.accessioned2022-02-18T11:20:08Z
dc.date.available2022-02-18T11:20:08Z
dc.date.issued2010
dc.identifier.citationDuru N., UĞUR İŞERİ S. A. , Selcuk N., TOLUN A., "Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3", JOURNAL OF NEUROGENETICS, cilt.24, sa.4, ss.207-215, 2010
dc.identifier.issn0167-7063
dc.identifier.othervv_1032021
dc.identifier.otherav_eb573fa4-7163-46b9-8b82-f2857196f6d6
dc.identifier.urihttp://hdl.handle.net/20.500.12627/180955
dc.identifier.urihttps://doi.org/10.3109/01677063.2010.514368
dc.description.abstractThe authors present three patients from a consanguineous family afflicted with novel recessive myoclonic epilepsy characterized by very early onset and a steadily progressive course. The onset is in early infancy, and death occurs in the first decade. In addition to various types of myoclonic seizures, episodic phenomena such as dystonias, postictal enduring hemipareses, autonomic involvements, and periods of obtundation and lethargy were also observed. Developmental and neurological retardation, coupled with systemic infections, leads to a full deterioration. The authors designated the disease progressive myoclonic epilepsy with dystonia (PMED). A genome scan for the family and subsequent fine mapping localized the gene responsible for the disease to the most telomeric 6.73 mega base pairs at the p-terminus of chromosome 16, with a maximum multipoint logarithm-of-odds score of 7.83 and a maximum two-point score of 4.25. A candidate gene was analyzed for mutations in patients, but no mutation was found.
dc.language.isoeng
dc.subjectCognitive Neuroscience
dc.subjectGeneral Neuroscience
dc.subjectNeuroscience (miscellaneous)
dc.subjectSensory Systems
dc.subjectHuman-Computer Interaction
dc.subjectGenetics (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectPhysical Sciences
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectNEUROSCIENCES
dc.subjectSinirbilim ve Davranış
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectDevelopmental Neuroscience
dc.subjectCellular and Molecular Neuroscience
dc.titleEarly-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3
dc.typeMakale
dc.relation.journalJOURNAL OF NEUROGENETICS
dc.contributor.departmentBoğaziçi Üniversitesi , ,
dc.identifier.volume24
dc.identifier.issue4
dc.identifier.startpage207
dc.identifier.endpage215
dc.contributor.firstauthorID3378272


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