Recent advances in the molecular genetics of epilepsy
Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard JH Smith, Ingrid E Scheffer, Samuel F Berkovic
JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2013
Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new 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 and the clinical management options available for their specific genetic condition. Compre..View full abstract
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Awarded by National Health and Medical Research Council
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.