ID: identification; JME: juvenile myoclonic epilepsy; GTCSa: generalized
tonic-clonic seizures on awakening; M: male; F: female; My: myoclonic
seizures; GTC: generalized tonic-clonic; A: absence; NI: not informed.
*novel variants.
Table 2. Guidelines for combining different criteria to
classify EFHC1 variants into ’pathogenic,’ ’likely pathogenic,’
benign,’ ’likely benign,’ or variants of uncertain significance (VUS).