DNM1L and Infantile encephalopathy: Herein, we further expand the clinical spectrum of DNM1L-associated mutations reporting the case of a de novo heterozygous variant (c.116G>A, p.Ser39Asn), recently described [15], and associated in our patient with progressive infantile encephalopathy, cardiomyopathy and paroxysmal refractory vomiting, probably due to subcortical involvement, but without epilepsy.