Whole-Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes

J Paediatr Child Health. 2018 Jun;54(6):709-710. doi: 10.1111/jpc.13939.
No abstract available

Publication types

  • Letter

MeSH terms

  • Child
  • Epilepsy, Rolandic / diagnosis
  • Epilepsy, Rolandic / physiopathology*
  • Exome Sequencing*
  • Female
  • Genomic Structural Variation / genetics*
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Potassium Channels / genetics*
  • Potassium Channels, Sodium-Activated
  • Twins*

Substances

  • KCNT1 protein, human
  • Nerve Tissue Proteins
  • Potassium Channels
  • Potassium Channels, Sodium-Activated