Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms

Epilepsia. 2009 Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Allelic Imbalance / genetics
  • Calcium Channels / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 19 / genetics*
  • Comparative Genomic Hybridization
  • Epilepsy / genetics*
  • Gene Deletion*
  • Gene Rearrangement / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Spasms, Infantile / genetics*

Substances

  • CACNA1A protein, human
  • Calcium Channels