Please use this identifier to cite or link to this item: https://doi.org/10.1055/s-2000-15290
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dc.titleA KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
dc.contributor.authorLee, W.L.
dc.contributor.authorBiervert, C.
dc.contributor.authorHallmann, K.
dc.contributor.authorTay, A.
dc.contributor.authorDean, J.C.S.
dc.contributor.authorSteinlein, O.K.
dc.date.accessioned2014-12-01T06:53:16Z
dc.date.available2014-12-01T06:53:16Z
dc.date.issued2000-02
dc.identifier.citationLee, W.L., Biervert, C., Hallmann, K., Tay, A., Dean, J.C.S., Steinlein, O.K. (2000-02). A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family. Neuropediatrics 31 (1) : 9-12. ScholarBank@NUS Repository. https://doi.org/10.1055/s-2000-15290
dc.identifier.issn0174304X
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/113329
dc.description.abstractBenign familiar neonatal convulsions (BFNC) are one of the rare idiopathic epilepsies with autosomal dominant mode of inheritance. Two voltage-gated potassium channels, KCNQ2 on chromosome 20q13.3 and KCNQ3 on 8q24, have been recently identified as the genes responsible for BFNC. Here we describe a large family with BFNC in which we found a previously undescribed mutation in the KCNQ2 gene. A 1187+2T/G nucleotide exchange affects the conserved donor splice site motif in intron 9. This mutation can be predicted to give rise to aberrant splicing of the primary transcript. There was a wide range of clinical manifestations in this family. An unusual clinical feature is the occurrence of partial seizures in later life with corresponding focal neurological deficits.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1055/s-2000-15290
dc.sourceScopus
dc.subjectEpilepsy
dc.subjectGene mutation
dc.subjectPotassium channel
dc.typeArticle
dc.contributor.departmentPAEDIATRICS
dc.description.doi10.1055/s-2000-15290
dc.description.sourcetitleNeuropediatrics
dc.description.volume31
dc.description.issue1
dc.description.page9-12
dc.description.codenNRPDD
dc.identifier.isiut000086664500003
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