Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

摘要

See Guerrini and Mei (doi:10.1093/brain/awy196) for a scientific commentary on this article.Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease. Cen et al. identify the probable causative mutation by showing that an intronic pentanucleotide (TTTCA)n insertion in SAMD12 co-segregates with the disease in 18 Chinese pedigrees.