The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice

Neurobiol Dis. 2021 May:152:105296. doi: 10.1016/j.nbd.2021.105296. Epub 2021 Feb 11.
No abstract available

Keywords: GABRG2 gene; Generalized epilepsy with febrile seizures; Genetic epilepsies; SUDEP.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Disease Models, Animal*
  • Epileptic Syndromes / genetics*
  • Gene Knock-In Techniques
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Receptors, GABA-A / genetics*
  • Seizures, Febrile / genetics*
  • Sudden Unexpected Death in Epilepsy

Substances

  • GABRG2 protein, human
  • Receptors, GABA-A