Rodent genetic models of neurodevelopmental disorders and epilepsy

Research output: Contribution to journalReview articlepeer-review

Abstract

Neurodevelopmental disorders (NDDs) are characterised by cognitive, social and motor deficits and are highly comorbid with intractable epilepsies. Through advances in genetic sequencing technologies a vast number of genes have been implicated in NDDs. State-of-the-art gene-editing techniques have led to the generation of hundreds of mouse models of NDDs. As an example, rodent models of Rett and Dravet syndromes as well as the syndromes caused by mutations in CDKL5 and Syngap1 display cognitive deficits in conjunction with seizure phenotypes. These models allow researchers to understand the underlying mechanisms as well as develop novel treatment strategies that can potentially be translated to the clinic. Furthermore, it may be possible to gain insights into the contribution of epilepsy to the progression of cognitive, social and motor phenotypes in NDDs.

Original languageEnglish
Pages (from-to)66-69
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume24
Early online date13 Dec 2019
DOIs
Publication statusPublished - Jan 2020

Keywords

  • CDKL5
  • Epilepsy
  • MECP2
  • Neurodevelopmental disorders
  • SCN1A
  • SYNGAP1

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