Intronic (TTTGA)_n insertion in <i>SAMD12</i> also causes familial cortical myoclonic tremor with epilepsy

Abstract

The targeted long-read sequencing helped us to elucidate the accurate structures of the (TTTGA)_n and (TTTCA)_n insertions. Our finding offers a novel possible cause for familial cortical myoclonic tremor with epilepsy and might shed light on the identification of genetic causes of this disease in pedigrees with no detected (TTTCA)_n insertion in the reported causative genes. © 2019 International Parkinson and Movement Disorder Society.