Polyalanine expansion of ARX associated with cryptogenic West syndrome

Neurology. 2003 Jul 22;61(2):267-76. doi: 10.1212/01.wnl.0000068012.69928.92.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Crossing Over, Genetic
  • Exons / genetics
  • Gene Duplication
  • Homeodomain Proteins / chemistry
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / physiology
  • Humans
  • Infant, Newborn
  • Male
  • Peptides / chemistry
  • Point Mutation
  • Repetitive Sequences, Amino Acid*
  • Spasms, Infantile / genetics*
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • ARX protein, human
  • Homeodomain Proteins
  • Peptides
  • Transcription Factors
  • polyalanine