The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits

Epilepsia. 2022 Sep;63(9):2439-2441. doi: 10.1111/epi.17358. Epub 2022 Jul 20.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Drug Resistant Epilepsy* / genetics
  • Epilepsy* / complications
  • Epilepsy* / genetics
  • Gain of Function Mutation
  • Humans
  • Phenotype
  • Receptors, GABA-A / genetics

Substances

  • GABRA4 protein, human
  • Receptors, GABA-A