Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures

Neurology. 2008 Feb 19;70(8):653-5. doi: 10.1212/01.wnl.0000284607.12906.c5. Epub 2007 Dec 5.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Epilepsies, Partial / genetics*
  • Epilepsies, Partial / pathology
  • Genetic Predisposition to Disease*
  • Glutamine / genetics
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • Humans
  • Hypothalamic Diseases / genetics*
  • Hypothalamic Diseases / pathology
  • Kruppel-Like Transcription Factors / genetics*
  • Magnetic Resonance Imaging / methods
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single-Stranded Conformational / genetics*
  • Zinc Finger Protein Gli3

Substances

  • GLI3 protein, human
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Zinc Finger Protein Gli3
  • Glutamine