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|Title:||A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family|
|Source:||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|
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