Referenced in: none

Automatically associated channels: Kv7.2 , Kv7.3

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

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

Journal, date & volume: Neuropediatrics, 2000 Feb , 31, 9-12

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

Abstract
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.