The first pathogenic variant was found in SPTAN1 in patients with West syndrome, a constellation of symptoms primarily characterized by epileptic/infantile spasms, abnormal brain electroencephalography (EEG) patterns called hypsarrhythmia, and ID (Table 1); two patients possessed a heterozygous in-frame 3bp deletion or 6bp duplication in SPTAN1 [100]. This evidence concerns the gene SPTAN1 and Hypsarrhythmia.