Repeat expansions with small TTTCA insertions in MARCHF6 cause familial myoclonus without epilepsy

Authors: Theresa Kühnel PhD, Elsa Leitão PhD, Renate Lunzer MD, PhD, Fabian Kilpert PhD, Sabine Kaya MS, Claudia Del Gamba MD, Kelly Astudillo MD, Steven Frucht MD, MD, Marion Simonetta-Moreau MD, PhD, Eric Bieth MD, PhD, Iris Unterberger MD, Giulietta Maria Riboldi MD, PhD, Christel Depienne PhD