Previously, de novo ATP1A1 variants were reported in hypomagnesemia, spastic paraplegia, sleep disorder, intellectual disability and epileptic encephalopathy and, complex neurodevelopmental syndrome [24–27], whereas, inherited ATP1A1 variants were associated with axonal or intermediate CMT [12–14] (Table 1). The gene discussed is ATP1A1; the disease is Epileptic encephalopathy.