A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

Neurology. 2003 Jul 8;61(1):131-4. doi: 10.1212/01.wnl.0000069465.53698.bd.

Abstract

Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials
  • Animals
  • CHO Cells
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Cricetinae
  • DNA Mutational Analysis
  • Electroencephalography
  • Electrophysiology
  • Epilepsy, Benign Neonatal / diagnosis*
  • Epilepsy, Benign Neonatal / genetics*
  • Epilepsy, Benign Neonatal / physiopathology
  • Female
  • Gene Transfer Techniques
  • Humans
  • KCNQ2 Potassium Channel
  • Male
  • Mutation*
  • Oocytes / metabolism
  • Pedigree
  • Potassium Channels / genetics*
  • Potassium Channels / metabolism
  • Potassium Channels, Voltage-Gated
  • Protein Subunits / genetics
  • Protein Subunits / metabolism
  • Temporal Lobe / physiopathology*
  • Xenopus

Substances

  • KCNQ2 Potassium Channel
  • KCNQ2 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • Protein Subunits