An inherited nonsense R1645X mutation in neuronal sodium channel 1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy

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dc.contributor.authorGökben S.
dc.contributor.authorBerdeli A.
dc.contributor.authorSerdarolu G.
dc.date.accessioned2019-10-27T08:35:13Z
dc.date.available2019-10-27T08:35:13Z
dc.date.issued2009
dc.departmentEge Üniversitesien_US
dc.description.abstractSevere myoclonic epilepsy of infancy (SMEI) is a well-known catastrophic epileptic syndrome. Several mutations of the sodium channel alpha 1 subunit (SCN1A) gene were reported in patients with SMEI. Most of the mutations were de novo. Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T; p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood. © Georg Thieme Verlag KG Stuttgart New York.en_US
dc.identifier.doi10.1055/s-0029-1234083en_US
dc.identifier.endpage84en_US
dc.identifier.issn0174-304X
dc.identifier.issue2en_US
dc.identifier.pmid19809937en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage82en_US
dc.identifier.urihttps://doi.org/10.1055/s-0029-1234083
dc.identifier.urihttps://hdl.handle.net/11454/27196
dc.identifier.volume40en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofNeuropediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectinherited mutationen_US
dc.subjectnonsenseen_US
dc.subjectsevere myoclonic epilepsy of infancyen_US
dc.subjectsodium channel alpha 1 subuniten_US
dc.titleAn inherited nonsense R1645X mutation in neuronal sodium channel 1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancyen_US
dc.typeArticleen_US

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