KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

Abstract

Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.

MeSH terms

  • Anticonvulsants / therapeutic use*
  • Electroencephalography
  • Epilepsy, Benign Neonatal / complications
  • Epilepsy, Benign Neonatal / diagnosis
  • Epilepsy, Benign Neonatal / drug therapy*
  • Epilepsy, Benign Neonatal / genetics*
  • Female
  • Gestational Age
  • Humans
  • Infant
  • KCNQ2 Potassium Channel / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Motor Skills Disorders / etiology
  • Motor Skills Disorders / genetics
  • Mutation / genetics*
  • Phenotype

Substances

  • Anticonvulsants
  • KCNQ2 Potassium Channel