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Article

Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.

Epilepsia - 1 Nov 2023

Brunklaus Andreas, George Alfred L, Lal Dennis, Heinzen Erin L, Goldman Alica M

Abstract excerpt

The recent explosion of epilepsy genetic testing has created challenges for interpretation of gene variants. Assessments of the functional consequences of genetic variants either by predictive or experimental strategies can contribute to estimating pathogenicity, but there is no consensus on which approach is best. The Special Interest Group on Epilepsy Genetics hosted a session during the Annual American...

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PMID: 37562820
DOI: 10.1111/epi.17743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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