[Atypical presentation of early childhood epileptic encephalopathy associated with the gene KCNT1]

Rev Neurol. 2020 Jul 1;71(1):41-42. doi: 10.33588/rn.7101.2020142.
[Article in Spanish]

Abstract

Presentación atípica de encefalopatía epiléptica infantil precoz asociada al gen KCNT1.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anticonvulsants / therapeutic use
  • Diet, Ketogenic
  • Drug Resistant Epilepsy / diet therapy
  • Drug Resistant Epilepsy / genetics
  • Drug Therapy, Combination
  • Genes, Dominant
  • Genetic Association Studies*
  • Humans
  • Infant
  • Male
  • Mutation, Missense
  • Nerve Tissue Proteins / genetics*
  • Point Mutation
  • Potassium Channels, Sodium-Activated / genetics*
  • Spasms, Infantile / drug therapy
  • Spasms, Infantile / genetics*

Substances

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

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy