Journal article

Models for discovery of targeted therapy in genetic epileptic encephalopathies

Snezana Maljevic, Christopher A Reid, Steven Petrou

JOURNAL OF NEUROCHEMISTRY | WILEY | Published : 2017

Abstract

Epileptic encephalopathies are severe disorders emerging in the first days to years of life that commonly include refractory seizures, various types of movement disorders, and different levels of developmental delay. In recent years, many de novo occurring variants have been identified in individuals with these devastating disorders. To unravel disease mechanisms, the functional impact of detected variants associated with epileptic encephalopathies is investigated in a range of cellular and animal models. This review addresses efforts to advance and use such models to identify specific molecular and cellular targets for the development of novel therapies. We focus on ion channels as the best..

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Grants

Awarded by National Health and Medical Research Council (NHMRC) of Australia


Awarded by NHMRC fellowship


Funding Acknowledgements

The authors declare no conflict of interest. We thank Umesh Nair for carefully reading this manuscript. This work was supported by the National Health and Medical Research Council (NHMRC) of Australia through a Program grant 10915693 to S.P and C.A.R. S.P. was supported by a NHMRC fellowship 1005050. C.A.R. acknowledges the support of the Dowd Fellowship. This study was also supported by The Florey Institute of Neuroscience and Mental Health acknowledges the strong support from the Victorian Government and, in particular, the funding from the Operational Infrastructure Support Grant.