Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts

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dc.contributor.authorGüzel, Aslan
dc.contributor.authorTatlı, Mehmet
dc.contributor.authorBilgüvar, Kaya
dc.contributor.authorDiLuna, Michael L.
dc.contributor.authorBakkaloğlu, Betül
dc.contributor.authorÖztürk, Ali K.
dc.contributor.authorBayraklı, Fatih
dc.date.accessioned2024-04-24T15:59:18Z
dc.date.available2024-04-24T15:59:18Z
dc.date.issued2007
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Beyin ve Sinir Cerrahisi Ana Bilim Dalıen_US
dc.description.abstractWe report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the acacumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such as LIS1, 14-3-3 epsilon, and DCX, this syndrome may constitute a new phenotype with autosomal recessive inheritance.(c) 2007 Wiley-Liss, Inc.en_US
dc.identifier.citationGüzel, A., Tatlı, M., Bilgüvar, K., DiLuna, M. L., Bakkaloğlu, B., Öztürk, A. K. ve diğerleri. (2007). Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal of Medical Genetics, Part A, 143(7), 672-677.
dc.identifier.doi10.1002/ajmg.a.31640
dc.identifier.endpage677en_US
dc.identifier.issn1552-4825
dc.identifier.issue7en_US
dc.identifier.pmid17343267
dc.identifier.scopus2-s2.0-34247206973
dc.identifier.scopusqualityQ3
dc.identifier.startpage672en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.31640
dc.identifier.urihttps://hdl.handle.net/11468/13950
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.31640
dc.identifier.volume143Aen_US
dc.identifier.wosWOS:000245450200005
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGüzel, Aslan
dc.institutionauthorTatlı, Mehmet
dc.language.isoenen_US
dc.publisherWiley-Lissen_US
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLissencephalyen_US
dc.subjectGeneticsen_US
dc.subjectArachnoid cystsen_US
dc.subjectMental retardationen_US
dc.subjectPachygyriaen_US
dc.subjectNeuronal migration defectsen_US
dc.subjectPachygyriaen_US
dc.subjectSeizuresen_US
dc.titleApparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cystsen_US
dc.titleApparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
dc.typeArticleen_US

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