Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in <i>UBR4</i> and <i>HSPG2</i>, genes previously associated with episodic ataxia 8 (EA8). The gene discussed is UBR4; the disease is episodic ataxia type 8.