Article

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

2024-05-14

Abstract excerpt

Variants in genes encoding the voltage-gated ion channels are among the most common monogenic causes of epilepsy and neurodevelopmental disorders. Functional effects of a variant are increasingly important for diagnosis and therapeutic decisions. To incorporate knowledge regarding functional consequences in formal clinical variant interpretation, we developed an approach for evaluating multiple functional measurem...

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Literature Corpus work: 01322715-5d45-5c4d-870f-45fc2423281e
DOI: 10.1101/2024.05.09.593343

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