Area of research
Psychiatry and Mental health · Molecular Biology
Research interest
Research topics from publications: Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy; Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation. Representative work: Abstract Background Intronic (TTTCA) n insertions in the SAMD12 , TNRC6A , and RAPGEF2 genes have been identified as causes of familial cortical myoclonic tremor with epilepsy. Objective To identify the cause of familial cortical myoclonic tremor with epilepsy pedigrees without (TTTCA) n insertions in SAMD12 , TNRC6A , and RAPGEF2 . Methods Repeat‐primed polymerase chain reaction, long‐range polymerase chain reaction, and Sanger sequencing were performed to identify the existence of a novel (TTTGA) n insertion. Targeted long‐read sequencing was performed to confirm the accurate structure of the (TTTGA) n insertion. Results We identified a novel expanded intronic (TTTGA) n insertion at the sa