Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics*
  • Adaptor Proteins, Vesicular Transport / metabolism
  • Epilepsy / genetics*
  • Epilepsy / physiopathology*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology*
  • Humans
  • Hyperekplexia / genetics
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Reflex, Abnormal / genetics*
  • Status Epilepticus / genetics

Substances

  • Adaptor Proteins, Vesicular Transport
  • TRAK1 protein, human

Supplementary concepts

  • Hyperekplexia and Epilepsy