Article
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2026
Smith Lacey, Bonkowski Emily, Prentice Anna, Cohen Stacey, Lusk Laina, Parthasarathy Shridhar, Burns Brendan, Butler Elizabeth, Chen Yanmin, Dady Kathleen, Dugger Sarah, Ing Alexander, Lassiter Rhonda, Lewis-Smith David, Mulhern Maureen, Nguyen Jimmy N H, Olival Jonathan, Sajan Samin A, Thompson Christopher H, George Alfred L, Wagnon Jacy, Yergert Katie, Magielski Jan H, McKee Jillian L, Riggs Erin, Wiltrout Kimberly, Poduri Annapurna, Helbig Ingo, Mefford Heather C
Abstract excerpt
PURPOSE: Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We created a Clinical Genome Resource variant curation expert panel and adapted the American College of Medical Genetics and Genomics and the Association for Molecular Pathology recommendations for sequence variant classification for each of these genes. METHODS:...
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