fig2

Figure 2. Schematic of the diagnostic procedure in developmental and epileptic encephalopathie patients presenting negative genetic testing. The first step is phenotyping and clinical reevaluation of the patient with electroclinical data, neuroimaging, phenotyping of relatives, or other tests such as cognitive and behavioral profiling. This leads to a diversion point when the procedure will include completing the study and/or reanalyzing previous studies, assessing variants of uncertain significance (VUS), reevaluating the data with different bioinformatics algorithms, or analyzing genes of uncertain significance (GUS). Sometimes the limitations of sequencing make it necessary to employ other techniques, such as whole genome, transcriptomic (RNA) sequencing, or methylation analysis techniques, among others.