Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 24, Issue -, Pages 66-69Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2019.12.012
Keywords
Neurodevelopmental disorders; Epilepsy; MECP2; SCN1A; CDKL5; SYNGAP1
Categories
Funding
- Epilepsy Research UK
- Simons Initiative for the Developing Brain
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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 Syngapl 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. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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