For six variants, segregation analysis revealed that the identified variant co‐segregated with the dystonia phenotype in the affected families, supporting its pathogenic role (EIF2AK2:p.Pro31Ser, EIF2AK2:p.Gly130Arg, THAP1:p.Ser51Arg, GCH1:p.Glu61*, SGCE:p.Met174Lys, SGCE:c.233‐1G>A:p.)? The gene discussed is EIF2AK2; the disease is Dystonia.