Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/31074
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dc.contributor.authorKnowles, Juliet K-
dc.contributor.authorHelbig, Ingo-
dc.contributor.authorMetcalf, Cameron S-
dc.contributor.authorLubbers, Laura S-
dc.contributor.authorIsom, Lori L-
dc.contributor.authorDemarest, Scott-
dc.contributor.authorGoldberg, Ethan M-
dc.contributor.authorGeorge, Alfred L-
dc.contributor.authorLerche, Holger-
dc.contributor.authorWeckhuysen, Sarah-
dc.contributor.authorWhittemore, Vicky-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorLowenstein, Daniel H-
dc.date2022-
dc.date.accessioned2022-10-21T04:48:36Z-
dc.date.available2022-10-21T04:48:36Z-
dc.date.issued2022-10-
dc.identifier.citationEpilepsia 2022; 63(10): 2461-2475en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/31074-
dc.description.abstractThe genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; fuller understanding of natural histories; agility and rigor in preclinical research, including strategic use of emerging model systems; and engagement of an evolving group of stakeholders (including patient advocates, governmental resources, and clinicians and scientists in academia and industry). In each of these areas, we highlight notable examples of recent progress, new or persistent challenges, and future directions. The future of precision medicine for genetic epilepsy looks bright if key opportunities on the horizon can be pursued with strategic and coordinated effort.en
dc.language.isoeng
dc.subjectepilepsyen
dc.subjectexome sequencingen
dc.subjectgenomic medicineen
dc.subjectpersonalized medicineen
dc.subjectprecision medicineen
dc.titlePrecision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationMedicine (University of Melbourne)en
dc.identifier.affiliationDepartment of Neurology, Division of Child Neurology, Stanford University School of Medicine, Stanford, California, USA..en
dc.identifier.affiliationDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.. Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.. Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.. Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.. Institute of Clinical Molecular Biology, University of Kiel, Kiel, Germany.. Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany..en
dc.identifier.affiliationDepartment of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, Utah, USA..en
dc.identifier.affiliationCitizens United for Research in Epilepsy, Chicago, Illinois, USA..en
dc.identifier.affiliationDepartment of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA..en
dc.identifier.affiliationDepartment of Pediatrics and Neurology, University of Colorado, School of Medicine, Aurora, Colorado, USA..en
dc.identifier.affiliationDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.. Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.. Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA..en
dc.identifier.affiliationDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA..en
dc.identifier.affiliationDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany..en
dc.identifier.affiliationDivision of Neurology, University Hospital Antwerp, Antwerp, Belgium.. Applied and Translational Neurogenomics Group, Vlaams Instituut voor Biotechnologie Center for Molecular Neurology, Antwerp, Belgium.. Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.. μNEURO Research Center of Excellence, University of Antwerp, Antwerp, Belgium..en
dc.identifier.affiliationDivision of Neuroscience, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Rockville, Maryland, USA..en
dc.identifier.affiliationDepartment of Neurology, University of California, San Francisco, San Francisco, California, USA..en
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.doi10.1111/epi.17332en
dc.type.contentTexten
dc.identifier.orcidhttps://orcid.org/0000-0002-9214-2991en
dc.identifier.orcidhttps://orcid.org/0000-0001-8486-0558en
dc.identifier.orcidhttps://orcid.org/0000-0002-1510-0405en
dc.identifier.orcidhttps://orcid.org/0000-0002-1645-9356en
dc.identifier.orcidhttps://orcid.org/0000-0002-9479-6729en
dc.identifier.orcidhttps://orcid.org/0000-0002-4544-3724en
dc.identifier.orcidhttps://orcid.org/0000-0002-7404-735Xen
dc.identifier.orcidhttps://orcid.org/0000-0002-3993-966Xen
dc.identifier.orcidhttps://orcid.org/0000-0002-1783-8710en
dc.identifier.orcidhttps://orcid.org/0000-0003-2878-1147en
dc.identifier.orcidhttps://orcid.org/0000-0003-4580-841Xen
dc.identifier.orcidhttps://orcid.org/0000-0002-9546-2085en
dc.identifier.pubmedid35716052
local.name.researcherBerkovic, Samuel F
item.languageiso639-1en-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
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