De novo KCNQ2 mutations in patients with benign neonatal seizures

L R F Claes; B Ceulemans; D Audenaert; L Deprez; A Jansen; D Hasaerts; S Weckx; K G Claeys; J Del-Favero; C Van Broeckhoven; P De Jonghe

doi:10.1212/01.wnl.0000145629.94338.89

De novo KCNQ2 mutations in patients with benign neonatal seizures

Neurology. 2004 Dec 14;63(11):2155-8. doi: 10.1212/01.wnl.0000145629.94338.89.

Authors

L R F Claes¹, B Ceulemans, D Audenaert, L Deprez, A Jansen, D Hasaerts, S Weckx, K G Claeys, J Del-Favero, C Van Broeckhoven, P De Jonghe

Affiliation

¹ Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp, Antwerpen, Belgium.

PMID: 15596769
DOI: 10.1212/01.wnl.0000145629.94338.89

Abstract

Benign familial neonatal convulsions (BFNC) are characterized by unprovoked seizures during the first weeks of life with spontaneous remission after a few months. Mutations have been identified in the voltage-gated potassium ion channels KCNQ2 and KCNQ3. The authors performed a mutation analysis of KCNQ2 and KCNQ3 in six patients of whom four had no family history of neonatal seizures. The authors identified three KCNQ2 mutations in four patients that all arose de novo.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Adult
DNA Mutational Analysis
Epilepsy, Benign Neonatal / classification
Epilepsy, Benign Neonatal / genetics*
Exons / genetics
Female
Genes, Dominant
Genotype
Humans
Infant, Newborn
KCNQ2 Potassium Channel
KCNQ3 Potassium Channel
Male
Pedigree
Potassium Channels, Voltage-Gated / deficiency
Potassium Channels, Voltage-Gated / genetics*
RNA Splice Sites / genetics*
Sequence Deletion*

Substances

KCNQ2 Potassium Channel
KCNQ2 protein, human
KCNQ3 Potassium Channel
KCNQ3 protein, human
Potassium Channels, Voltage-Gated
RNA Splice Sites