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SeminarPast EventNeuroscience

Epilepsy Genetics – From Family Studies to Polygenic Risk Scores

Sam Berkovic

Dr.

University of Melbourne

Schedule
Thursday, January 20, 2022

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Schedule

Thursday, January 20, 2022

5:00 AM Canada/Eastern

Host: NEURO Epilepsy Lecture Series

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Event Information

Domain

Neuroscience

Original Event

View source

Host

NEURO Epilepsy Lecture Series

Duration

60 minutes

Abstract

Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been greatly under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies. The clinical evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Initial molecular discoveries occurred via classical methods of linkage and gene identification. Recent large-scale hypothesis-free whole exome studies searching for rare variants and genome-wide association studies detecting common variants have been very rewarding. These discoveries have now impacted on clinical practice, especially in severe childhood epilepsies but increasingly so in adult patients. The “genetic background” of patients has long been posited as part of the reason that some patients have epilepsy, or perhaps why some have more severe epilepsy. This has been unmeasurable but now, with the development of polygenic risk scores, the “background” is now in the research foreground. The current and future impact of polygenic risk scores will be explored.

Topics

childhood epilepsiesepilepsygene identificationgenetic componentgeneticsgenome-wide association studieslinkagepolygenic risk scoressevere epilepsywhole exome studies

About the Speaker

Sam Berkovic

Dr.

University of Melbourne

Contact & Resources

No additional contact information available

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