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Article

Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox

15 Mar 2018

Abstract excerpt

Exome and targeted sequencing have revolutionized clinical diagnosis. This has been particularly striking in epilepsy and neurodevelopmental disorders, for which new genes or new variants of preexisting candidate genes are being continuously identified at increasing rates every year. A surprising finding of these efforts is the recognition that gain of function potassium channel variants are actually associated...

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PMID: 29542386
DOI: 10.1177/1073858418763752

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