Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

Indian J Pediatr. 2018 Dec;85(12):1134-1135. doi: 10.1007/s12098-018-2741-x. Epub 2018 Jul 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autistic Disorder / etiology*
  • Child, Preschool
  • Drug Resistant Epilepsy / etiology*
  • Humans
  • Male
  • Mutation*
  • Tay-Sachs Disease / complications*
  • Tay-Sachs Disease / genetics*
  • beta-Hexosaminidase alpha Chain / genetics*

Substances

  • HEXA protein, human
  • beta-Hexosaminidase alpha Chain