PAFAH1B1 Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms

Neurol India. 2023 Mar-Apr;71(2):388-389. doi: 10.4103/0028-3886.375386.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase / genetics
  • Chromosome Deletion
  • Classical Lissencephalies and Subcortical Band Heterotopias* / genetics
  • Gene Deletion
  • Humans
  • Infant
  • Microtubule-Associated Proteins / genetics
  • Spasms, Infantile* / genetics

Substances

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Microtubule-Associated Proteins
  • PAFAH1B1 protein, human