Article
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Human mutation - 1 Nov 2018
Helbig Ingo, Riggs Erin Rooney, Barry Carrie-Anne, Klein Karl Martin, Dyment David, Thaxton Courtney, Sadikovic Bekim, Sands Tristan T, Wagnon Jacy L, Liaquat Khalida, Cilio Maria Roberta, Mirzaa Ghayda, Park Kristen, Axeen Erika, Butler Elizabeth, Bardakjian Tanya M, Striano Pasquale, Poduri Annapurna, Siegert Rebecca K, Grant Andrew R, Helbig Katherine L, Mefford Heather C
Abstract excerpt
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving...
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