Please use this identifier to cite or link to this item:
|Title:||A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family|
|Citation:||Lee, 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|
|Abstract:||Benign 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.|
|Appears in Collections:||Staff Publications|
Show full item record
Files in This Item:
There are no files associated with this item.
checked on Dec 11, 2018
WEB OF SCIENCETM
checked on Dec 3, 2018
checked on Oct 19, 2018
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.