biostudies-literatureLin PHKaohsiung Chang Gung Memorial HospitalNational Health Research InstitutesNational Science and Technology Council635-642https://www.ebi.ac.uk/biostudies/studies/S-EPMC12014929biostudies-literatureUnknown10(2)The Ankyrin 2 (ANK2) gene encodes the ankyrin-B protein (ANKB), which is involved in the organization and stability of membrane ion channels, transporters, and receptors in cardiomyocytes and neurons. Variants in ANK2 genes are initially reported in long QT syndrome and autism. Animal models with ANK2 deletion have exhibited seizures and been anecdotally associated with epilepsy in case reports. Hereby, we reported a Taiwanese family with the ANK2 pathogenic variant (chr4:114276707, c.6933del, p.T2312Lfs*2) that affects the giant ankyrin-B isoform. The family members presented with young-onset self-limited focal epilepsy, and achieved seizure-free in adulthood with antiseizure medications. Interestingly, the electrocardiogram revealed no obvious cardiac phenotype. We further reviewed reporEpilepsia openSelf-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition.PMC12014929NHRI NHRI‐EX112‐11022NICORPG8P0141NSTC 110-2314-B-182-065-MY3NSTC 110‐2314‐B‐182‐065‐MY3CMRPG8N0951CMRPG8L1333NHRI NHRI-EX112-11022NIChan CHHo CJTsai MHHou YYLin PHLin CHfalseSelf-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition.The Ankyrin 2 (ANK2) gene encodes the ankyrin-B protein (ANKB), which is involved in the organization and stability of membrane ion channels, transporters, and receptors in cardiomyocytes and neurons. Variants in ANK2 genes are initially reported in long QT syndrome and autism. Animal models with ANK2 deletion have exhibited seizures and been anecdotally associated with epilepsy in case reports. Hereby, we reported a Taiwanese family with the ANK2 pathogenic variant (chr4:114276707, c.6933del, p.T2312Lfs*2) that affects the giant ankyrin-B isoform. The family members presented with young-onset self-limited focal epilepsy, and achieved seizure-free in adulthood with antiseizure medications. Interestingly, the electrocardiogram revealed no obvious cardiac phenotype. We further reviewed repor2025-01-01T00:00:00Z2025 Apr2026-06-02T19:08:25.819Z2025-07-03T03:05:06.252ZS-EPMC120149293996291010.1002/epi4.70003