Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome

Pediatr Neurol. 2018 Sep:86:69-70. doi: 10.1016/j.pediatrneurol.2018.06.002. Epub 2018 Jul 10.
No abstract available

Keywords: EIEE; Health care efficiency; KCNQ-2; Ohtahara syndrome; Rapid whole genome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Early Diagnosis
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • KCNQ2 Potassium Channel / genetics*
  • Mutation, Missense*
  • Spasms, Infantile / diagnosis*
  • Spasms, Infantile / drug therapy*
  • Spasms, Infantile / economics
  • Spasms, Infantile / genetics

Substances

  • KCNQ2 Potassium Channel
  • KCNQ2 protein, human

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy