PMC8642047_01
Noted pathogenic/likely pathogenic variants in specified patient
10.1177_2329048X211036546-fig1.jpg
PMC8642047_01_10.1177_2329048X211036546-fig1.jpg
fig1-2329048X211036546
An EEG at 5 months of age confirmed hypsarrhythmia (see Figure 1).