Abstract
Pathogenic variants in genes encoding voltage-gated or ligand-gated ion channels cause monogenic epilepsies, which are collectively referred to as inherited channelopathies associated with epilepsy. Next-generation sequencing based epilepsy panel testing has been routinely used to evaluate early-life epilepsy (ELE) patients at local hospitals in Hong Kong. However, identification of variants of uncertain significance (VUSs) has become a major obstacle. Because loss-of-function (LoF) and gain-of-function (GoF) variants require completely distinct sets of antiepileptic drugs (AEDs) for clinical treatment, it is critical to obtain an accurate molecular diagnosis and understand the pathogenicity mechanism in these patients.
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