Journal article

Epilepsy genetics: clinical impacts and biological insights

Colin A Ellis, Slave Petrovski, Samuel F Berkovic

The Lancet Neurology | ELSEVIER SCIENCE INC | Published : 2020

Abstract

Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of genetic mechanisms and neurobiological pathways that contribute to these disorders. The new genomic era can present a challenge to clinicians, who now find themselves asked to interpret and apply genetic data to their daily management of patients with epilepsy. Navigation of this new era will require genetic literacy and familiarity with research advances in epilepsy genetics. Genetic epilepsy diagnoses now directly affect clinical care, and t..

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Grants

Awarded by NIH NINDS Ruth L Kirschstein National Research Service Award (NRSA) Institutional Research Training Grant


Funding Acknowledgements

SP is an employee of and reports personal fees from AstraZeneca. CAE was supported in part by an NIH NINDS Ruth L Kirschstein National Research Service Award (NRSA) Institutional Research Training Grant (T32 NS091008). SFB reports grants from UCB Pharma, Eisai, and SciGen, outside of the submitted work, and has a patent for SCN1A testing held by Bionomics and licensed to various diagnostic companies. He was a consultant to Bionomics and Athena diagnostics.