Epilepsy with auditory features: Contribution of known genes in 112 patients

Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause Autosomal Dominant EAF anecdotally reported in non-familial cases. Pathogenic variants SCN1A DEPDC5 also described few probands belonging to families heterogeneous phenotypes incomplete penetrance. We aimed estimate contribution these genes disorder by evaluating largest cohort EAF. included 112 unrelated cases (male/female: 52/60) who underwent genetic analysis next-generation sequencing (NGS) techniques. Thirty-three (29.5%) were familial diagnosis for 8% our cohort, including pathogenic/likely pathogenic (4/8 novel) (2.7%, CI: 0.6-7.6); (1.8%; 0.2-6.3); (2.7%; 0.6-7.6) (0.9%; CI 0-4.9).This study shows that each known overall limited background still largely unknown. Our data emphasize heterogeneity will inform management individuals this disorder.