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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.

W L Lee, C Biervert, K Hallmann, A Tay, J C Dean, O K Steinlein

Neuropediatrics, 2000 Feb , 31, 9-12

Benign familial 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(+2)T/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.

http://www.ncbi.nlm.nih.gov/pubmed/10774989