Recent advances in the molecular genetics of epilepsy

MS Hildebrand; HHM Dahl; JA Damiano; RJH Smith; IE Scheffer; SF Berkovic

Journal article

Recent advances in the molecular genetics of epilepsy

MS Hildebrand, HHM Dahl, JA Damiano, RJH Smith, IE Scheffer, SF Berkovic

Journal of Medical Genetics | Published : 2013

DOI: 10.1136/jmedgenet-2012-101448

Abstract

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been asteady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent ofnew screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk andthe clinical management options available for their specific genetic condition. Comprehen..

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University of Melbourne Researchers

Michael Hildebrand Author

Ingrid Scheffer Author

Sam Berkovic Author

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Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

This work was supported by a National Health and Medical Research Council Program Grant (628952) to SFB and IES, an Australia Fellowship (466671) to SFB, a Practitioner Fellowship (1006110) to IES and a Postdoctoral Training Fellowship (546493) to MSH.SFB and IES have received research support and honoraria from Bionomics. Bionomics has licensed a diagnostic test for SCN1A mutations.