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Neuropediatrics 2000; 31(1): 9-12
DOI: 10.1055/s-2000-15290
Original Article

Georg Thieme Verlag Stuttgart · New York

A KCNQ2 Splice Site Mutation Causing Benign Neonatal Convulsions in a Scottish Family

W. L. Lee1 , C. Biervert2 , K. Hallmann2 , A. Tay1 , J. C.S. Dean3 , O. K. Steinlein2
  • 1Department of Pediatrics, National University of Singapore, Singapore
  • 2Institute for Human Genetics, University of Bonn, Bonn, Germany
  • 3Aberdeen Royal Hospital, Department of Medical Genetics, Aberdeen Royal Infirmary, Scotland, UK
Further Information

Publication History

February 12, 1999

August 31, 1999

Publication Date:
31 December 2000 (online)

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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+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.

Key words

Epilepsy - Gene mutation - Potassium channel

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