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Article

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Epilepsia open - 1 Dec 2024

Hussein Yara, Weisblum-Neuman Hila, Ben Zeev Bruria, Stern Shani

Abstract excerpt

OBJECTIVE: Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of the results remain uncertain and are not considered directly causative of...

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Identifiers

PMID: 39509559
DOI: 10.1002/epi4.13085
PMCID: PMC11633689

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