A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

Neurology. 2011 Apr 19;76(16):1436-8. doi: 10.1212/WNL.0b013e3182166e58.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Muscle Hypertonia / etiology
  • Muscle Hypertonia / genetics*
  • Mutation / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Seizures / complications
  • Seizures / genetics*

Substances

  • Protein Serine-Threonine Kinases
  • CDKL5 protein, human