PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 35247271-3 2022 METHODS: We enrolled 36 patients carrying heterozygous pathogenic intronic pentanucleotide insertions in the SAMD12 gene and 52 age- and sex-matched healthy controls. pentanucleotide 75-90 sterile alpha motif domain containing 12 Homo sapiens 109-115 32973343-1 2021 Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. pentanucleotide 138-153 sterile alpha motif domain containing 12 Homo sapiens 175-181 32174879-7 2020 In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME. pentanucleotide 58-73 sterile alpha motif domain containing 12 Homo sapiens 88-94 30194086-10 2019 CONCLUSIONS: We identified the pentanucleotide repeat expansion in SAMD12 as the causative mutation in Chinese FCMTE pedigrees. pentanucleotide 31-46 sterile alpha motif domain containing 12 Homo sapiens 67-73