Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

Sarah B. Mulkey*, Bruria Ben-Zeev, Joost Nicolai, John L. Carroll, Sabine Gronborg, Yong-hui Jiang, Nishtha Joshi, Megan Kelly, David. A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)436-445
Number of pages10
JournalEpilepsia
Volume58
Issue number3
DOIs
Publication statusPublished - Mar 2017

Keywords

  • KCNQ2
  • Neonatal seizures
  • Myoclonus
  • Epileptic encephalopathy
  • Infantile spasms
  • ONSET EPILEPTIC ENCEPHALOPATHY
  • POTASSIUM CHANNEL SUBUNITS
  • VOLTAGE SENSOR
  • MUTATIONS
  • CONVULSIONS
  • PHENOTYPE
  • SPECTRUM
  • HYPEREXCITABILITY
  • SUPPRESSION
  • SEIZURES

Cite this

Mulkey, S. B., Ben-Zeev, B., Nicolai, J., Carroll, J. L., Gronborg, S., Jiang, Y., Joshi, N., Kelly, M., Koolen, D. A., Mikati, M. A., Park, K., Pearl, P. L., Scheffer, I. E., Spillmann, R. C., Taglialatela, M., Vieker, S., Weckhuysen, S., Cooper, E. C., & Cilio, M. R. (2017). Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia, 58(3), 436-445. https://doi.org/10.1111/epi.13676