Sodium channels and the neurobiology of epilepsy

M Oliva; SF Berkovic; S Petrou

Journal article

Sodium channels and the neurobiology of epilepsy

M Oliva, SF Berkovic, S Petrou

Epilepsia | Published : 2012

DOI: 10.1111/j.1528-1167.2012.03631.x

Abstract

Voltage-gated sodium channels (VGSCs) are integral membrane proteins. They are essential for normal neurologic function and are, currently, the most common recognized cause of genetic epilepsy. This review summarizes the neurobiology of VGSCs, their association with different epilepsy syndromes, and the ways in which we can experimentally interrogate their function. The most important sodium channel subunit of relevance to epilepsy is SCN1A, in which over 650 genetic variants have been discovered. SCN1A mutations are associated with a variety of epilepsy syndromes; the more severe syndromes are associated with truncation or complete loss of function of the protein. SCN2A is another important..

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University of Melbourne Researchers

Sam Berkovic Author

Related Projects (4)

Epilepsy: Molecular basis and mechanisms in the era of functional genomics

The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain..

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NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

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Grants

Awarded by NHMRC

Awarded by NHMRC Australia fellowship

Funding Acknowledgements

Supported by NHMRC program grant 400121 to SP and SFB and NMHRC fellowship (1005050) to SP and an NHMRC Australia fellowship (466671) to SFB. The Florey Neuroscience Institutes are supported by Victorian State Government infrastructure funds.