Language Regression in an Atypical SLC6A1 Mutation

Semin Pediatr Neurol. 2018 Jul;26:25-27. doi: 10.1016/j.spen.2018.04.001.


Recent technological advances in exome sequencing or targeted gene sequencing with epilepsy panels have allowed clinicians to better understand the pathogenesis and clinical presentation of children with epilepsy. We present a child with a SLC6A1 mutation with language delay and autistic spectrum disorder and remind the reader that the identification of specific mutations in these conditions increase the likelihood of identification of potential therapeutic targets.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / physiopathology
  • Child, Preschool
  • Diagnosis, Differential
  • Epilepsy / diagnostic imaging
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Female
  • GABA Plasma Membrane Transport Proteins / genetics*
  • Humans
  • Language Development Disorders / diagnostic imaging
  • Language Development Disorders / drug therapy
  • Language Development Disorders / genetics*
  • Language Development Disorders / physiopathology
  • Mutation*


  • GABA Plasma Membrane Transport Proteins
  • SLC6A1 protein, human