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Article

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

JAMA pediatrics - 1 Sept 2017

Berg Anne T, Coryell Jason, Saneto Russell P, Grinspan Zachary M, Alexander John J, Kekis Mariana, Sullivan Joseph E, Wirrell Elaine C, Shellhaas Renée A, Mytinger John R, Gaillard William D, Kossoff Eric H, Valencia Ignacio, Knupp Kelly G, Wusthoff Courtney, Keator Cynthia, Dobyns William B, Ryan Nicole, Loddenkemper Tobias, Chu Catherine J, Novotny Edward J, Koh Sookyong

Abstract excerpt

Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective: To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28759667
DOI: 10.1001/jamapediatrics.2017.1743
PMCID: PMC5710404

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