WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation

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dc.contributor.authorSerin, Hepsen Mine
dc.contributor.authorSimsek, Erdem
dc.contributor.authorIsik, Esra
dc.contributor.authorGokben, Sarenur
dc.date.accessioned2019-10-27T10:01:09Z
dc.date.available2019-10-27T10:01:09Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractEpileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. With whole-exome sequencing, we identified a homozygous WWOX missense mutation, p.Leu239Arg, in a girl from a consanguineous family with psychomotor developmental delay, acquired microcephaly, and epileptic seizures. WWOX-related epileptic encephalopathy is a rare condition but it should be considered in cases having early epileptic spasms and parental consanguinity.en_US
dc.identifier.doi10.1007/s10072-018-3528-6en_US
dc.identifier.endpage1980en_US
dc.identifier.issn1590-1874
dc.identifier.issn1590-3478
dc.identifier.issue11en_US
dc.identifier.pmid30094525en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1977en_US
dc.identifier.urihttps://doi.org/10.1007/s10072-018-3528-6
dc.identifier.urihttps://hdl.handle.net/11454/29811
dc.identifier.volume39en_US
dc.identifier.wosWOS:000448510000021en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer-Verlag Italia Srlen_US
dc.relation.ispartofNeurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectEpileptic encephalopathyen_US
dc.subjectMicrocephalyen_US
dc.subjectGeneticen_US
dc.subjectWWOXen_US
dc.titleWWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlationen_US
dc.typeArticleen_US

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