AFG2A and ethylmalonic encephalopathy: In order to independently prove this high frequency of SPATA5-related EE and DEE, we analyzed its prevalence in 39 cases with infantile or childhood epilepsies who received diagnostic exome sequencing and identified one case carrying a previously reported homozygous SPATA5 disease-associated variant NM_145207.2(SPATA5):c.[251 G > A];[251 G > A] p.[(Arg84Gln)];[(Arg84Gln)].